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BIOLOGICAL
ANTHROPOLOGY
BY Dr ARJUN BOPANNA
2019 edition
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CONTENT
INTRODUCTION .............................................................................................................................................. 6
BIOLOGICAL ANTHROPOLOGY ......................................................................................................................................... 7
TERMS AND GENERAL CONCEPTS .................................................................................................................................. 11
METHODS FOR STUDY OF GENETIC PRINCIPLES ............................................................................................. 16
FAMILY STUDY........................................................................................................................................................... 16
PEDIGREE ANALYSIS .................................................................................................................................................... 16
TWIN STUDY: ......................................................................................................................................................... 20
CO-TWIN METHOD:- .................................................................................................................................................. 23
FOSTER CHILD METHOD: ....................................................................................................................................... 24
CYTOGENETIC METHOD ........................................................................................................................................ 25
BIOCHEMEICAL METHOD ...................................................................................................................................... 32
IMMUNOLOGICAL METHOD ......................................................................................................................................... 34
RECOMBINANT DNA TECHNOLOGY ...................................................................................................................... 36
MENDELIAN GENETICS .................................................................................................................................. 39
MENDEL’S LAWS/PRINCIPLES OF INHERITANCES .............................................................................................................. 40
PATTERN OF INHERITANCE ........................................................................................................................................... 45
SINGLE FACTOR INHERITANCE: ............................................................................................................................. 47
MULTIFACTOR INHERITANCE IN MAN ............................................................................................................................ 48
CONTINUOUS POLYGENIC INHERITANCE/QUANTITATIVE INHERITANCE ................................................................................. 49
LETHAL AND SUB-LETHAL INHERITANCE IN MAN............................................................................................................... 51
APPLICATION OF MENDEL’S LAWS TO HUMANS ............................................................................................................... 54
POPULATION GENETICS ................................................................................................................................ 58
GENETIC POLYMORPHISM: .......................................................................................................................................... 61
HARDY WEINBERG LAW OR PRINCIPLE POPULATION THEOREM. ......................................................................................... 63
FORCES WHICH CHANGE GENE FREQUENCY .................................................................................................................... 67
GENE FLOW .............................................................................................................................................................. 68
MUTATION: .............................................................................................................................................................. 70
SELECTION: ............................................................................................................................................................... 72
GENETIC DRIFT (OR) SEWALL WRIGHT EFFECT .................................................................................................................. 75
INBREEDING .............................................................................................................................................................. 79
ISOLATION: ............................................................................................................................................................... 81
GENETIC LOAD: ......................................................................................................................................................... 84
CONSANGUINEOUS AND NON CONSANGUINEOUS MATING ............................................................................................... 86
CHROMOSOMAL ABERRATIONS .................................................................................................................... 89
INTERSEXES/HERMAPHRODITES .................................................................................................................................... 96
GENETIC IMPRINTING (GENOMIC/PARENTAL IMPRINTING)........................................................................................... 98
GENETIC SCREENING: .......................................................................................................................................... 100
GENETIC COUNSELLING:...................................................................................................................................... 102
GENE MAPPING: .................................................................................................................................................. 104
GENETIC FINGER PRINTING / HUMAN DNA PROFILING ................................................................................................... 105
RACE AND RACISM ...................................................................................................................................... 111
CRITERIA USED FOR DETERMINING RACE ....................................................................................................................... 114
TYPES OF CHOSEN CRITERIA........................................................................................................................................ 115
RACIAL CLASSIFICATION AND DIFFERENTIATION .............................................................................................................. 127
VARIATION IN GENETIC MAKERS .................................................................................................................. 131
BLOOD GROUP AS GENETIC MARKER ........................................................................................................... 131

HUMAN LEUKOCYTE ANTIGEN (HLA) SYSTEM ................................................................................................................ 137
GM GROUPS ........................................................................................................................................................... 139
BLOOD PROTEIN POLYMORPHISM .............................................................................................................................. 140
BLOOD ENZYMES ..................................................................................................................................................... 141
VARIATION IN PHYSIOLOGICAL CHARACTERISTICS ........................................................................................ 143
HAEMOGLOBIN (HB) LEVEL ....................................................................................................................................... 143
VARIATION IN BP ..................................................................................................................................................... 145
VARIATION IN BODY FAT ........................................................................................................................................... 146
RESPIRATORY FUNCTION ........................................................................................................................................... 147
PULSE RATE............................................................................................................................................................. 147
SENSORY PERCEPTION ............................................................................................................................................... 147
ECOLOGICAL ANTHROPOLOGY ..................................................................................................................... 149
RESPONSE TO ENVIRONMENT STRESS ........................................................................................................................... 153
HEAT ADAPTATION ................................................................................................................................................... 154
ADAPTATION TO HIGH ALTITUDE ................................................................................................................................ 159
COLD CLIMATE RESPONSES ........................................................................................................................................ 162
EPIDEMIOLOGICAL ANTHROPOLOGY ............................................................................................................ 166
INFECTIOUS DISEASE ................................................................................................................................................. 166
NON-INFECTIOUS DISEASES/NON-COMMUNICABLE DISEASES .......................................................................... 170
MALNUTRITION RELATED DISEASES .............................................................................................................................. 173
GROWTH AND DEVELOPMENT ..................................................................................................................... 177
BASIC CONCEPTS ...................................................................................................................................................... 178
STAGE OF GROWTH .................................................................................................................................................. 180
FACTORS INFLUENCING GROWTH AND DEVELOPMENT : .................................................................................................. 186
METHODOLOGIES FOR GROWTH STUDIES:.................................................................................................................... 191
AGEING AND SENESCENCE ........................................................................................................................... 193
THEORIES OF AGEING: .............................................................................................................................................. 193
CHRONOLOGICAL AND BIOLOGICAL AGE ...................................................................................................................... 196
LIFE TABLE/MORTALITY TABLE/ACTUARIAL TABLE. ......................................................................................................... 197
HUMAN PHYSIQUE AND SOMATOTYPES ...................................................................................................... 198
METHODS OF CATEGORIZING HUMAN PHYSIQUE .............................................................................................. 199
DEMOGRAPHIC THEORIES............................................................................................................................ 204
THEORY OF DEMOGRAPHIC TRANSITION ....................................................................................................................... 210
BIOLOGICAL AND SOCIO-ECOLOGICAL FACTORS INFLUENCING FECUNDITY, FERTILITY, NATALITY AND MORTALITY
................................................................................................................................................................... 214
BIO EVENTS TO FERTILITY:.......................................................................................................................................... 214
FERTILITY PATTERN AND DIFFERENTIALS:....................................................................................................................... 217
LOW FERTILITY IN DEVELOPED COUNTRIES .................................................................................................................... 218
FACTORS RESULTING IN HIGH FERTILITY IN DEVELOPING COUNTRIES ................................................................................... 218
PATTERNS OF MORTALITY: ........................................................................................................................................ 219
APPLIED ANTHROPOLOGY ........................................................................................................................... 222
ANTHROPOLOGY OF SPORT /KINANTHROPOLOGY:....................................................................................... 223
DIFFERENT SOMATOTYPES AND SPORTS: ....................................................................................................................... 224
NUTRITIONAL ANTHROPOLOGY ................................................................................................................... 225
ASSESSMENT OF NUTRITIONAL STATUS ........................................................................................................ 227

NUTRITION AND CULTURAL PRACTICE ........................................................................................................................... 230
ANTHROPOLOGY IN DESIGNING EQUIPMENT ............................................................................................... 233
DESIGNING DEFENCE EQUIPMENT ............................................................................................................................... 234
DESIGNING OTHER OBJECTS ....................................................................................................................................... 235
FORENSIC ANTHROPOLOGY ......................................................................................................................... 237
METHODS AND PRINCIPLES OF PERSONAL IDENTIFICATION: .............................................................................................. 240
APPLIED HUMAN GENETICS ......................................................................................................................... 241
PATERNITY DIAGNOSIS / PARENTAGE DETERMINATION ................................................................................................... 241
EUGENICS: .............................................................................................................................................................. 242
DNA TECHNOLOGY IN DISEASE AND MEDICINE:............................................................................................................ 244
GENE THERAPY:....................................................................................................................................................... 244
SEROGENETICS AND CYTOGENETICS IN REPRODUCTIVE BIOLOGY ....................................................................................... 245
INTRODUCTION
Anthropology is the study of ALL aspects of humankind in all its forms, in all place at all times.
The term Anthropology is a
combination of two terms
(derived from Greek word),
‘Anthropos’ and ‘logus’, the
former meaning human and
the later meaning discourse or
science. Thus anthropology is
the science of man. The subject
matter of anthropology is vast.
It includes everything that has
to do with human beings, past
and present, far and near. It has been described as the science of man in totality.
Anthropology is divided into four subfields:
1. Biological anthropology, Cultural anthropology: A subfield of

2. Cultural anthropology, anthropology that focuses on human cultural
behavior and cultural systems and the variation
3. Linguistic anthropology, and
in cultural expression among human groups.
4. Archaeological Anthropology.
Linguistic anthropology: A subfield of
Some anthropologists consider linguistics anthropology that studies language as a human
characteristic and attempts to explain the
and archaeology as subfields within
differences among languages and the
cultural anthropology. In addition, applied
relationship between a language and the society
anthropology—a method more than a
that uses it.
discipline—is sometimes considered a fifth Biological anthropology: A subfield of
subfield. anthropology that studies humans as a
Cultural anthropology is the study of biocultural species.
human societies in a cross-cultural and Physical anthropology: The traditional name for
focuses on how people lead their daily lives biological anthropology. Anthropology The
is at the heart of the field. Ethnology, one biocultural study of the human species.
of the subfields of cultural anthropology, is Bioanthropology: Another name for biological
the study of human societies and of the anthropology.
behavior of people within those societies. Archaeology: A subfield of anthropology that
The practice of ethnology is called studies the human cultural past and the
reconstruction of past cultural systems.
ethnography (literally, “the describing of
culture”).
Linguistic anthropology is the study of the form, function, and social context of
language. Linguistic anthropologists usually are more interested in language use and the role
that language plays in shaping culture, than they are in the technical aspects of language
structure.
Archaeological anthropology is the study of how people used to live, based on the materials,
or artifacts, they left behind. These artifacts, art, implements, and other objects of material
culture form the basis for the analysis and interpretation of ancient cultures. Prehistoric
archaeologists study cultures that did not leave any recorded written history. Historical
archaeologists study past civilizations that left a written record of their existence.
Biological anthropology
Any scientist studying evolution as it relates to the human species, directly or indirectly, could
be called a biological anthropologist. This includes paleoanthropology, skeletal biology and
osteology, paleopathology, forensic anthropology, primatology, and human biology.
Biological anthropology is the study of human biology within the framework of evolution with
an emphasis on the interaction between biology and culture. This subdiscipline is also referred
to as Physical anthropology, and you’ll find the terms used interchangeably.
Physical anthropology is the original term, and it reflects the initial interests anthropologists
had in describing human physical variation. The American Association of Physical
Anthropologists, its journal, many college courses, and numerous publications retain this
term. The designation biological anthropology reflects the shift in emphasis to more
biologically oriented topics, such as genetics, evolutionary biology, nutrition, physiological
adaptation, and growth and development. This shift occurred largely because of advances in
the field of genetics and molecular biology since the late 1950s. Biological anthropology can
be further divided into the subfields as shown in the figure below:
Paleoanthropology: the study of anatomical and behavioral human evolution as

revealed in the fossil record, is a major subfield of physical anthropology. Thousands
of fossilized remains of early primates, including human ancestors,
are now kept in research collections. It’s the ultimate goal of paleoanthropological research
to identify the various early human and humanlike species, establish a chronological
sequence of relationships among them, and gain
insights into their adaptation and behavior. Only
then will we have a clear picture of how and when
modern humans came into being.
Primate paleontology can be viewed as a subset
of paleoanthropology. Primate paleontology is
the study of the primate fossil record, which
extends back to the beginning of primate
evolution some 65 million years ago (mya). By studying fossil primates and comparing them
with anatomically similar living species, primate paleontologists are learning a great deal
about factors such as diet or locomotion in earlier forms. They can also try to identify aspects
of behavior in some extinct primates and attempt to clarify what we know about evolutionary
relationships between extinct and modern species, including
ourselves.
Skeletal Biology: Visible physical variation was the other
major area of interest for early physical anthropologists.
Enormous effort was spent in measuring, describing, and
explaining visible differences among various human
populations, with particular attention being focused on skin
color, body proportions, and the shape of the head and face.
Although some approaches were misguided and even racist,
they gave birth to many body measurements that are
sometimes still used. They’ve been used to design
everything from wheel- chairs to office furniture. They have
also been used to determine the absolute minimum amount
of leg room a person needs in order to remain sane during a
3-hour flight on a commercial airliner ☺.
Anatomy is yet another important area of interest for Biological anthropologists. In living
organisms, bones and teeth are intimately linked to the soft tissues that surround and act on
them. Consequently a thorough knowledge of soft tissue anatomy is essential to
understanding the biomechanical relationships involved in movement. Such relationships are
important in assessing the structure and function of limbs and other components of fossilized
remains.
Human Biology and Genetics: Today, biological anthropologists are concerned with
human variation because of its possible adaptive significance and because they want to
identify the factors that have produced not only visible physical variation but genetic
variation as well. In other words, many traits that typify certain populations evolved as
biological adaptations, or adjustments, to local environmental conditions such as sunlight,
altitude, or infectious disease. Other characteristics may be the result of geographical
isolation or the descent of populations from small founding groups.
Since the early 1990s, the focus of human variation studies has shifted completely away from
the visible differences we see in people to the underlying genetic factors that influence these
and many other traits.
Modern population studies also examine other important aspects of human variation,
including how different groups respond physiologically to different kinds of environmentally
induced stress. Such stresses may include high altitude, cold, or heat. Nutritional
anthropologists study the relationships between various dietary components, cultural
practices, physiology, and certain aspects of health and disease. Investigations of human
fertility, growth, and development are also closely related to the topic of nutrition. These
fields of inquiry, which are fundamental to studies of adaptation in modern human
populations, can also provide insights into hominin evolution.
It would be impossible to study evolutionary processes without some knowledge of how
traits are inherited. For this reason, genetics is a crucial field for biological anthropologists.
Molecular anthropologists use cutting-edge technologies to investigate evolutionary
relationships between human populations as well as between humans and nonhuman
primates. To do this, they examine similarities and differences in DNA sequences between
individuals, populations, and species. What’s more, by extracting DNA from certain fossils,
these researchers have contributed to our understanding of evolutionary relationships
between extinct and living species. As genetic technologies continue to be developed,
molecular anthropologists will play a key role in explaining human evolution, adaptation, and
our biological relationships with other species.
However, before genetic and molecular techniques became widespread, osteology, the study
of the skeleton, was the only way that anthropologists could study our immediate ancestors.
In fact, a thorough knowledge of skeletal structure and function is still critical to the
interpretation of fossil material today. For this reason, osteology has long been viewed as
central to physical anthropology.
Many osteologists specialize in the measurement of skeletal elements, essential for
identifying stature and growth patterns in archaeological populations. The study of human
skeletal remains from archaeological sites has sometimes been called bioarchaeology.
Paleopathology, the study of disease and trauma in ancient skeletal populations, is a major
component of bioarchaeology. Paleopathologists investigate the prevalence of trauma,
certain infectious diseases (such as syphilis and tuberculosis), nutritional deficiencies,

and numerous other conditions that may leave evidence in bone. This research can tell us a
great deal about the lives of individuals and populations in the past. Paleopathology also
yields information regarding the history of certain disease processes, and for this reason it’s
of interest to scientists in biomedical fields.
Forensic anthropology is directly related to osteology and paleopathology. Technically, this
approach is the application of anthropological techniques to legal issues. Forensic
anthropologists help identify skeletal remains
in mass disasters or other situations in which a
human body has been found. They’ve been
involved in numerous cases having important
legal, historical, and human consequences.
They were instrumental in identifying the
skeletons of most of the Russian imperial
family, executed in 1918, and many
participated in the overwhelming task of trying
to identify the remains of victims of the
September 11, 2001, terrorist attacks in the Figure: These forensic anthropologists, working in a lab near
United States. Baghdad, are examining the skeletal remains of Kurdish victims
Given our evolutionary focus and the fact that of genocide.
we ourselves are primates, it’s natural that
primatology, the study of the living nonhuman primates, has become increasingly important
since the late 1950s). Because nonhuman primates are our closest living relatives, identifying
the underlying factors related to their social behavior, communication, infant care,
reproductive behavior, and so on helps us develop a better understanding of the natural
forces that have shaped so many aspects of modern human behavior. Nonhuman primates
are also important to study in their own right. This is particularly true today because the
majority of primate species are threatened or seriously endangered. For this reason many
primatologists have become actively involved in primate conservation. Only through study
will scientists be able to recommend policies that can better ensure the survival of many
nonhuman primates as well as thousands of other species.
Applied anthropology is the practical use of anthropological theories and methods outside
the academic setting. Within biological anthropology, forensic anthropology is a good
example of the applied approach. But the practical application of the techniques of physical
anthropology isn’t new. During World War II, for example, physical anthropologists were
extensively involved in designing gun turrets and airplane cockpits. Since then, many physical
anthropologists have pursued careers in genetic and biomedical research, Kinanthropology,
public health, evolutionary medicine, medical anthropology, and the conservation of
nonhuman primates.
Q. Meaning and scope of Biological (Physical) Anthropology
Terms and General Concepts

This section is meant for getting the major ideas and concepts clear for genetics per se.
No questions will be asked from the section except a clear idea helps you further for the
following chapters. Let’s begin…
1. Inheritance: The acquisition of traits genetically transmitted from parents to
offspring. That which is inherited from parents to offspring
2. Traits:
✓ A trait may be any single feature or quantifiable measurement of an organism.
✓ A visible trait is the final product of many molecular and biochemical processes.
✓ In most cases, information starts with DNA traveling to RNA and finally to protein
(ultimately affecting organism structure and function).
✓ Genetic Characteristics or attributes of an organism that are expressed
by genes and/or influenced by the environment.
✓ Traits include physical attributes of an organism such as hair color, leaf shape,
size, etc., and behavioral characteristics, such as bird nesting.
3. Genome: A genome is an organism’s complete set of DNA, including all of its genes.
✓ Each genome contains all
of the information
needed to build and
maintain that organism.
✓ In humans, a copy of the
entire genome—more
than 3 billion DNA base
pairs—is contained in all
cells that have a nucleus.
4. DNA molecule:
✓ DNA molecule referred to as the "double-helix." DNA is like two strings
twisted together in a long spiral.
✓ DNA is found in all cells as base pairs made of four different nucleotides.
Each base pair is formed from two complementary nucleotides bonded
together. The four bases in DNA's are:
Adenine
Cytosine
Guanine
Thymine
✓ Adenine and thymine always bond together as a pair, and cytosine and
guanine bond together as a pair. The pairs link together like rungs in a ladder
5. Codon: Every three base pairs in the DNA chain encodes for one amino acid in an
enzyme. Three nucleotides in a row on a DNA strand is therefore referred to as
a codon.
6. Gene: A gene is a locus (or region) of DNA which is made up of nucleotides and is
the molecular unit of heredity . For eg gene for blood group or gene for height
✓ The transmission of genes to an organism's offspring is the basis of the
inheritance of phenotypic traits.
✓ These genes make up different DNA sequences called genotypes. For eg
genotype of person,i.e. Belonging to negrito race
✓ Genotypes along with environmental and developmental factors determine
what the phenotypes will be.
7. Allele: An allele is an alternative form of a gene (one member of a pair) that is located
at a specific position on a specific chromosome. For eg allele for blood groups-A,B,O
are present on chromosome 9.
✓ Diploid organisms typically have two alleles for a trait. When allele
pairs are the same, they are homozygous. If not they are heterozygous.
✓ When the alleles of a pair are heterozygous, the phenotype of one trait may
be dominant and the other recessive. The dominant allele is expressed and
the recessive allele is masked. This is known as complete dominance.
✓ In heterozygous relationships where neither allele is dominant but both are
completely expressed, the alleles are considered to be co-dominant. Co-
dominance is exemplified in AB blood type inheritance.
✓ When one allele in not completely dominant over the other, the alleles are
said to express incomplete dominance.
✓ Allele frequency The percentage of times a particular allele appears in a
population. Another name, and the preferred term, for gene frequency.
8. Adaptation: The state in which an
organism is adjusted to and can
survive in its environment through
its physical traits and behaviors.
Also, the process
by which an organism develops
this state through natural
processes. Adaptive radiation The
evolution and spreading out of
related species into new niches.
9. Amino acids The chief components of proteins. Each “word” in the genetic code stands
for a specific amino acid.
10. Antibodies Proteins in the immune system that react to foreign antigens.
11. Antigens Substances, such as proteins, that can trigger an immune response, for
example, the production of an antibody. The antigens of the ABO blood-group system
are examples.
12. Chromosomal mutations: Mutations of a whole chromosome or a large portion of a
chromosome.
13. Evolution- Change through time, usually with reference to biological species, but may
also refer to changes within cultural systems.
14. Fitness- The relative adaptiveness of an individual organism, measured ultimately by
reproductive success.
15. Gametes- The cells of sexual reproduction, commonly sperm and egg, which
contain only half the chromosomes of a normal cell.
16. Gene pool- All the alleles in
a population.
17. Mitosis- The process of cell
division results in two
exact copies of the original
cell.
18. Meiosis- The process of cell
division in which gametes
are produced, each gamete
having one-half the normal
complement of
chromosomes and,
therefore, only one allele of
each original pair.
19. Polygenic- A trait coded for
by more than one gene.
Skin color is a polygenic
trait.
20. Monogenic- A trait coded
for by a single gene. The
ABO blood-group system is
a monogenic trait.
21. Species- A group of organisms that can produce fertile offspring among themselves
but not with members of other groups. A closed genetic population, usually physically
distinguishable from other populations.
22. Taxonomy A classification based on similarities and differences. In biology, the science
of categorizing organisms and of naming them so as to reflect their relationships
Methods for study of Genetic Principles

Genetic principles are the rules or standards governing the biological phenomenon of
heredity , the transmission of characteristics from parents to offspring via information
encoded biochemically using DNA , in units called genes.
Mendel’s studies have provided scientists with the basis for mathematically predicting the
probabilities of genotypes and phenotypes in the offspring of a genetic cross. But not all
genetic observations can be explained and predicted based on Mendelian genetics. Hence
scientist have developed various methods to study these genetic principles. This chapter
deals with these methods.
Family Study
• The study of family and its members and the of physical features among the members
• It throws light on the genetic make-up of members of the family.
• It is one of the simplest methods to study genetic principles. It uses pedigree analysis
to study them.
• It helps to study the inheritance of certain traits
• For diagnosis of some diseases
• For the purpose of genetic counselling
Pedigree analysis
• In this method we gather information about all existing members of the family who
are under study and gather information as much as possible about previous
generation also
• Pedigree analysis was first suggested by Galton he defined it as a method of studying
genetic aspect of man with emphasis on inheritance of train that shows a regular
transmission from generation to generation in family
• Pedigree analysis or pedigree chart is a diagram showing inheritance of a particular
date or traits for two or more generations of biologically related individuals
• By studying a pedigree information about Mendelian principles of segregation and
independent assortment apart from providing information on allelism and linkage
• Nature of inheritance of a particular group like autosomal dominant inheritance,
recessive inheritance, x-linked, Y-linked partial sex linkages could be ascertained
Pedigree Analysis is a basic method of genetic study based on the communication with the
propositus (the person from whom a line of descent is derived on genealogical tables) or
proposita, who may be the affected individual or the individual interested in knowing the
possibility of occurance of genetic trait
For preparing a pedigree chart information from atleast 3 generation is considered. The
above figure shows a sample of pedigree chart. Below is a various symbols use to construct
pedigree chart:
A pedigree is a chart of the genetic history of a family over several generations

• Males are represented as squares, while females are represented as circles
• Shaded symbols mean an individual is affected by a condition, while an unshaded
symbol means they are unaffected
• A horizontal line between man and woman represents mating and resulting children
are shown as offshoots to this line
• Generations are labeled with roman numerals and individuals are numbered according
to age (oldest on the left)
Example:
Determining Autosomal Inheritance
Dominant and recessive disease conditions may be identified
only if certain patterns occur (otherwise it cannot be confirmed)
Autosomal Dominant
If both parents are affected and an offspring is unaffected, the
trait must be dominant (parents are both heterozygous)
All affected individuals must have at least one affected parent
If both parents are unaffected, all offspring must be unaffected
(homozygous recessive)
Autosomal Recessive
If both parents are unaffected and an offspring is affected, the
trait must be recessive (parents are heterozygous carriers)
If both parents show a trait, all offspring must also exhibit the
trait (homozygous recessive)
Determining X-Linked Inheritance

It is not possible to confirm sex linkage from pedigree charts, as
autosomal traits could potentially generate the same results
However certain trends can be used to confirm that a trait
is not X-linked dominant or recessive
X-linked Dominant
If a male shows a trait, so too must all daughters as well as his
mother
An unaffected mother cannot have affected sons (or an affected
father)
X-linked dominant traits tend to be more common
in females (this is not sufficient evidence though)
X-linked Recessive
If a female shows a trait, so

too must all sons as well as her father
An unaffected mother can have
affected sons if she is a carrier
(heterozygous)
X-linked recessive traits tend to be
more common in males (this is not
sufficient evidence though)
There may be deviation from the
simple mendalian mode of
transmission, which must be kept in
mind while studying pedigree.
Reasons-
1. Alleles though present may not
express itself- a phenomenon
called lack of penetrance
2. The expression may be
influenced by sex of individual-
sex influenced trait
3. Variable expression
4. Influence of environment- may
look like an inherited trait.
Conclusion: Thus, pedigree analysis can only present a broad indications, the advanced
methods in genetics like Karyotypic study and DNA studies have to be conducted to support
the hereditary studies.
Uses:
1. Predict risk of recurrence of genetic disorder
2. Analyse the source, mechanism and type of genetic disorder
3. For research- provide valuable source of information for observing prevalence rate of
different types of genetic disorder
TWIN STUDY:
First lets understand about twins:

Twins are two offspring produced by the same pregnancy. Twins can be either monozygotic
('identical'), meaning that they develop from one zygote, which splits and forms two
embryos, or dizygotic ('fraternal'), meaning that each twin develops from a separate egg and
each egg is fertilized by its own sperm cell.
The idea of using twins to study
the heritability of traits can be
traced back to the British
researcher Sir Francis Galton.
His pioneering work The History
of Twins in 1875 inspired much
debate by suggesting that
England's “chief men of genius”
were the product more of good
breeding (nature) than of good
rearing (nurture). Based on the
similarities he found between
twins from 80 questionnaires,
Galton proudly announced his
conclusion to the world that
nature soundly beats nurture,
though his sample was too
small and consisted of all
upper-class individals, without
any control group. After nearly
five decades, in the 1920s
researchers “perfected'
Galton's methods by comparing
identical and fraternal twins
and inferring heritability from
the differences between the
two
TYPES OF TWINS:
Monozygotic/Identical twin:
• Arise from single ovum fertilized by a single sperm and become a zygote. Zygote splits into
2 @ an early stage & develop into genetically identical individuals.
• Are exacting alike & genetically identical.
• Same sex, blood group.
• Similar physical character
• If any difference is noticed in their phenotype, it could be attributed to their Environment.
• Therefore study of twins help in understanding the traits of human being which could be
changed by providing better environment.
• (Ex- 1Q, Social behaviour)
Dizygotic twins/Fraternal twins:-

• When 2 different ovum are fertilized by 2 different sperms @ the same time it results in
the formation of 2 different zyrote.
• Not exactly identical.
• May not be of same sex.
Analysis- How it is used to understand genetic principle?

If phenotypic similarities for a particular character are greater among identical twins than
among fraternal twins, we can ascribe this to genetic similarity of identical twin and genetic
dissimilarity of Fraternal twins.
On the other hand, if phenotypic similarly difference for a particular character are same for
both identical and fraternal twins, we can assume that genetic similarity or dissimilarity play
less role and the phenotypic is influenced by environment.
Hence, it is important that we must diagnose a twin as Monozygotic or Dizygotic. SO how can
we know whether a twin is Monozygotic or Dizygotic?
Diagnosis of Twins:
1. Placental Method:
• Distribution of placenta & membrane
can help to some extent in the diagnosis
of zygosity.
• In case of dizygotic twins, each twin has
complete membrane.
• In case of monozygotic twin:-
(i) Diamniotic dichorionic separate.
(ii) Diamniotic dichorionic fused.
(iii) Diamniotic mono chorionic

(iv) Mono amniotic mono chorionic
2. Similarity Method:
• Individual variations occurs in many genetic traits ex-blood group, serum
protein, HLA system etc.
• Monozygotic twins would have identical feature.
• Morphological features like eye colour, nose form, ear form etc can also be
used- but is less reliable.
3. DNA finger printing:
• DNA pattern of monozygotic twins is very similar.
• Most reliable method.
4. Dermatoglyphics: (study of Finger prints)
• Pattern similar in monozygotic twins
• Not fool proof.
5. Genetic Markers:
• Like blood groups, serum proteins & sex etc.
• The more markers are same the higher the probability that the twin are
monozygotic.
6. Skin Graft:
• DZ twin: reject graft
• MZ twin: accept graft from its co-twin.
Concordance and Discordance:(Important)

It is one of the ways the phenotypic similarities & difference for a character can be
measured in twins.
• Note whether the character is present or absent in one or both member
• If both possess the character or free from it, the pair is concordant (ie phenotypically
similar.)
• If only one member of the pair possess it, the pair is discordant.
• By measuring the degree of concordance between identical or fraternal twins, we can
measure/ assess the role of environment and heredity.
• Traits with a large genetic component will show a higher concordance rate for MZ
twins than for DZ twins. For 100% genetic trait, should be 1.0 in MZ twins and 0.5 for
DZ of same sex. Concordance ratio: MZ/ DZ. the higher it is, the more genetic a trait is
• More equal concordance & discordance ratio between the identical & fraternal
group would signify less emphasis on heredity & more emphasis on environment in
the determination of trait.
Co-twin Method:-
In twin method, the twins (MZ & DZ) are combined and studied in order to understand the
influence of heredity & environment. However in co-twin method- identical twin along
with its co-twin & fraternal twin along with its co-twin me investigated and compared.
Uses of Twin Study:
1. To estimate the role of hereditary & environment in the formation of character.
Also we will be able to study the interaction between heredity and environment which
is also referred to as Nature-Nurture interaction between heredity and environment.
2. Useful for drug testing trails in the treatment of disease- therapeutic trials.
3. To study the mechanism of transmission of genetic diseases in the population.
4. Twin study is very important in understanding behavioural genetics.
Case study:
The first reported classical twin study was a study performed by Walter Jablonski in 1922,
investigating the contribution of heredity to refraction in human eyes. Jablonski examined
the eyes of 52 twin pairs and by comparing the size of within-pair differences between
identical and nonidentical twins was able to infer the heritability of a trait.
Even later, in 1990, Thomas J. Bouchard, Jr. and his colleagues at the University of
Minnesota conducted one of the most famous research studies on genetic influence in
humans. They studied identical twins separated since birth and raised by different families
(adoption studies), and so assumed that similarities, if found any, must be those that are
heavily influenced by a person's genetic heritage.
Indian Scenario
Though there are many small-scale twin studies published in various journals related to
metabolic syndromes, cardiovascular diseases, respiratory diseases, cerebrovascular
diseases, epilepsy, dermatology, ophthalmology, psychology, chromosomal disorders, and
dentistry, among others, there exists no twin registry in India to documenting the details
of twins borne.
Issues with Twin study:

1. Does not actually specify the genetic and environment component, but rather realizes
it.
2. It does not recognize the nature, location or behaviour of gene nor does it recognize
the physical, chemical or biological components of environment.
3. Complex characters, such as intelligence & behaviour, are not independently

from genetic or environment influence alone, but due to interaction between the two-
hence cannot be easily qualified.
4. It assumes-Monozygotic twins are exactly identical However, evidence show that they
do different in number of characters like size & vigour.
5. Cannot be used to estimate the intrauterine environment component & influence.
6. Cannot be applied to analyse traits like congenital malformation.
7. A majority of environment factors are still being neglected. These factors may be
falsely assumed to be genetic.
8. By their nature, and because of small sample sizes, it is very difficult to quantitatively
analyze the results and so all experimentation tends to be observational; the sample
groups cannot be random so statistical analysis is impossible.
9. Inter population variation are not accounted for
For Example: a particular trait may differ in one population for genetic reason & same
trait in another population may differ due to environment influence.
10. Twinning by nature is itself a rare phenomenon in such case generalization of the
findings based on such study are questionable in its objectivity.
11. The experiment tends to assume that one gene affects one behavioral trait. Modern
genetic research is showing that many different genes can influence behavior.
FOSTER CHILD METHOD:
It is another method to analyse the influence of heredity and environment in the

development of traits. Its is complementary to twin study on nurture nature aspect Ex:-
Chicago school of studies of foster child.
In this method:
1. Various groups of children are selected @ random.
2. Placed in different homes classified as good, average & poor homes.
* since group of children are randomly selected, the genetic factor of trait studied, (say
intelligence) is equally distributed in them.
3. After lapse of time, they are tested on different intelligence scale.
• If intelligence, has environment component children placed in good home should
score better than those in average & poor homes.
• However it suffers from biases- both @ selection & analysis level.
Osborne in 1951 gave following requirement while using this technology:-

1. Foster child should be placed in the adoptive home sufficiently early to the influence
of environment from the earlier home.
2. No selective placement.
3. Sample from-various social levels should be selected.
4. Should not be from one population to eliminate variations due to ethnics or race.
ISSUES:
➢ Ethical Issues.
➢ Bias
➢ Only realizes does not specify the environment factor.
➢ Complex characters cannot be attributed to be any one environment.
➢ Majority of environment factor still neglected – falsely attributed to genetics
Case study of Schizophrenia

MODE OF INHERITANCE- Follows non-Mendelian mode with genes acting as risk
factors and not determinants.
FAMILY STUDIES – Better research techniques yielded estimates of an average
lifetime risk of around 5-10% among 1st degree relatives of people with
schizophrenia vs 0.2-0.6% among 1st degree relatives of controls.
TWIN STUDIES – Concordance rate for MZ twins is 40- 50% vs 10% for DZ twins.
Among Discordant MZ twins, the risk of schizophrenia is increased equally in
children of both the affected and unaffected twin.
ADOPTION STUDIES- children of affected mothers separated within 3 days of
birth vs control.
CYTOGENETIC METHOD
(Chromosomal Analysis & Karyotype Analysis)
Cytogenesis is the study of Chromosomes & the

related disease states caused by abnormal
chromosome number and /or structure. Normally
chromosomes can’t be seen in light microscope, but
during cell division they become condensed enough
to be easily analysed @ 1000X
To collect cells with their chromosomes in this condensed state, they are exposed to
a mitotic inhibitor which blocks formation of the spindle and arrests cell division at the
metaphase stage.
A variety of tissue can be used to obtain chromosome preparations- peripheral blood,
bone marrow, amniotic fluid, product of conception etc. Such chromosome preparations are
then subjected to various technique to identify possible numerical & structural changes.
What the various method to study Chromosomes:

Chromosomal analysis help Study:
(1) Traditionally observing the chromosomes ✓ Chromosomal aberration
under the microscope. Here we study their ✓ Cellular function
morphological characteristics such as ✓ Taxonomical relationships
✓ Relative lengths ✓ Info on evolutionary past
✓ Arm ratios
✓ Presence or absence of secondary
constructions.
(2) Chromosome banding technique:
✓ Developed during 2nd half of 20th century
✓ Allow the identification of individual
chromosomes that differ morphologically
with great degree of accuracy.
✓ Also allow identification of chromosome
that possess similar morphological
attributes.
✓ It also permits us to establish a correlation
between linkage maps & cytological maps
✓ This involves staining the chromosome with
fluorescent dyes. The staining gives
different pattern of bands & inter bands ie
stained & unstained regions along the
length of chromosome.
✓ The banding pattern of a particular chromosome remain constant for a
particular treatment.
At present four such banding pattern are known, which are represented as Q,G,C and R
Patters. Comparing chromosome pattern with normal banding pattern, abnormalities in
different chromosomes can be easily identified. In some cases bands can also be used as
Markers.
(a) Q bands
• Fluorescent bands observed on human chromosome by staining with
quinacrine mustrard & observed under UV light.
• It produce characteristic bright & dark bands on chromosomes.
• In their width, brightness & position there Q bands are so unique that individual
chromosomes could be identified & Q band Karyotypes could be constructed.
(b) G bands
• Produced by staining
with Giemsa stain.
• The bands occur on the
same locations as the Q
bands
• Their staining does not
require fluorescent
microscope.
(c) C Banding
• Stain all constitutive heterochromatin (that why C) localized to particular site
on the chromosomes. (ex- centromere region of chromosome).
(d) R Banding
• Also known as Reverse Banding.
• Pattern that is reverse of G banding
• That is light banded region of G banded chromosome becomes darkly stained
& vice versa.
In recent years- bands detected after treatment with restriction Enzyme (RE) RE band
Understanding Genetic linkages and mapping

When genes are found on different chromosomes or far apart on the same chromosome,
they assort independently and are said to be unlinked. When genes are close together on
the same chromosome, they are said to be linked. That means the alleles, or gene versions,
already together on one chromosome will be inherited as a unit more frequently than not.
We can see if two genes are linked, and how tightly, by using data from genetic crosses to
calculate the recombination frequency. By finding recombination frequencies for many
gene pairs, we can make linkage maps that show the order and relative distances of the
genes on the chromosome. I
• In general, organisms have a lot more genes than chromosomes.

• For instance, we humans have roughly 19,000 genes on 23 chromosomes (present in
two sets)
• The consequence? Each gene isn't going to get its own chromosome. In fact, not even
close! Quite a few genes are going to be lined up in a row on each chromosome, and
some of them are going to be squished very close together.
• Does this affect how genes are inherited? In some cases, the answer is yes. Genes that
are sufficiently close together on a chromosome will tend to "stick together," and the
versions (alleles) of those genes that are together on a chromosome will tend to be
inherited as a pair often. This phenomenon is called genetic linkage. When genes are
linked, genetic crosses involving those genes will lead to ratios of gametes (egg and
sperm) and offspring types that are not what we'd predict from Mendel's law of
independent assortment.
A linkage map (also known as a genetic map) is a table for a species or experimental
population that shows the position of its known genes or genetic markers relative to each
other in terms of recombination frequency, rather than a specific physical distance along
each chromosome.
3. In-situ hybridization with DNA probes:

There are 2 types- Simple and Fluorescence Hybridization
(a) Simple insitu Hybridization: In this technique we locate the physical position of a
known DNA sequence on a chromosome- helps physical mapping of genes or
repeated DNA sequences.
Following Step:
(i) DNA with in the cell is denatured by
treating the cells that have been
squashed on a cover slip.
(ii) The squashed cells is incubated in
solution of labelled DNA whose position
on a chromosome we are interested in
knowing. (Labelled DNA probe can be
either Radioactively labelled or
Biotinylated probe (utilize colorimetric
detection)
(iii) Wash the hybridization mix and observe
them under radiography (in case of
radioactively labelled) or by staining with Giemsa (for Biotin labelled probes) (b)
Fluorescence in situ Hybridization (FISH): Here molecules or labelling probe that
have affinity to fluorescence molecules (which will be be deposited on it) are used.
The sites thus located will exhibit fluorescence & can be photographed with a
fluorescent microscope.
Following advantage:-
✓ Higher resolution, sensitivity & speed.
✓ 2 or 3 colour can be used on the same slide for simultaneous detection & localization
of several DNA sequences in the same nucleus
✓ Entire genomes, whole chromosome, chromosome segment or single copy sequences
can be highlighted depending upon complexity of probe used.
✓ Can also be used for gene mapping in addition to studying structural and numerical
changes in chromosomes
(4) Karyotyping/Idiogram: Karyotype is a

systematized array of chromosomes of a single
cell prepared either by drawing or by
photography, with the extension in meaning
that the chromosomes of a single cell can typify
the chromosomes of an individual or even a
species.
The term ideogram is the diagrammatic
representation of a karyotype which may be
based on measurements of chromosomes in
several or many cells. This sort of arrangement
of chromosomes represents relative
morphology of chromosomes.
Method of Karyotyping:
✓ Blood leucocytes are separated from the blood & are stimulated to divide by
mitosis in vitro by adding phytohaemagglutinin.
✓ Colchicine is added to arrest cell division at metaphase stage.
✓ There cells are treated with hypotonic saline solution – This swells the cell &
provide clarity to chromosome & helps in counting.
✓ Chromosome stained with Giemsa technique to demonstrated banding pattern.
✓ A suitable spread of metaphase chromosome is photographed
✓ The individual chromosome some are cut out from the photograph and are
arranged in orderly fashion in homologous pairs- this arrangement is called
karyotype.
Depending upon the position of centromere & the relative length of 2 arms, the
photograph of chromosome are artificially arranged in the order of descending length in
7 groups from A to G.
Karyotyping helps in proper identification & numbering of chromosomes. Any gross

morphological change of abnormality in the shape or size of any chromosomes is easily
identified
(5) Computer Assisted Chromosome Analysis.

❖ While preparing karyotypes or ideograms, there may be personal error in measuring
chromosomes.
❖ Similarly difficulties are on countered while measuring chromosomes that are not lying
straight, but are curved at metaphase plate or are over lapping.
❖ In order to overcome these difficulties, interactive computer assisted image
processing systems are now available.
❖ Insitu hybridization can also be analysed with this computer assisted system.
❖ This adds precision in chromosome analysis for cytogenetic studies.
BIOCHEMEICAL METHOD
Biochemical methods or technique are used to determine the activities of the genes with in
cells. Human activities are initiated and controlled by some sort of biochemical reaction at
the cellular level. By proposing one gene-one enzyme’ hypothesis Beadle and Tatum in 1941
demonstrated that Gene express themselves through the synthesis of enzymes.
Precusor
substance
End product
Each step of biosynthetic pathway (transformation of a
precursor substance to its end product) is catalysed by specific
enzyme, which in turn is synthesized under the control of a
specific gene.
In this way genes control the appearance of phenotypic traits of Expressed as
an organism by exercising control on the development & phenotypic trait
biochemical activities of its cells. That means all these cellular
activities are controlled by enzymes, whose synthesis is directly
supervised by genes.
The genetic & biochemistry combined to elucidate the nature of metabolic pathways
& their control results in the development of a branch of genetics called biological genetics.
These have been widely studied in man where any error in the metabolic pathway is
expressed in the form of a disease.
Genes → Enzymes → Cellular activity
In this connection haemoglobin, transferrins, haptoglobins and G6PD etc are being studied
at population level to understand the variability of these blood proteins & enzymes. In the
field of human Biochemical genetics there are 4 major areas where research work is being
conducted actively.
1. Human Biochemical Error: - There are due to mistakes in metabolic processes for
which actually gene mutation is responsible.
2. Normal & Abnormal Haemoglobins- helped us to clarify the relation between

gene, protein & disease.
3. Genetic variability or Drug Action.
4. Bioinformatics and computation biology
Biochemical genetics was initiated by English Physician & Biochemist, Sir A.E. Garrod who
studied several congenital metabolic diseases in humans. He noticed that some of the
hereditary disease in man are due to the effects of mutant genes on the metabolic systems
Ex:- Five metabolic disorders have been noticed in man associated with defective metabolism
of phenylalanine, an essential amino acid of dietary
proteins. These are: Phenylkeonuria, Alkaptonuria,
Tyrosinosis, Albinism & Goitrous Cretinism
Each of the steps of normal metabolism of
phenylalanine is controlled by a specific enzyme.
Various diseases are caused by mutant genes that
block particular steps in biochemical reaction thus by studying the affected enzyme protein,
we will be able to pin point the defective gene based on the one gene- one enzyme
hypothesis.
Special techniques are used to separate the components of biochemical substances
reveal the inherited differences in their structure. One such method is separation &
identification of protein.
2 methods are used to separate protein & their
identification:-
1. Gel-filtration : It separates protein by their molecular weight.
The mixture of protein is passed through a column filled with
a polysaccharide called Sephadex. Protein with high molecular weight
cannot enter through them & thus they are separated.
2. Electrophoresis: Separation of protein on the basis of their electric charge.
When put in electric field they move towards +ve/-ve poles.
After proteins are separated, their Amino acid can be analyzed using westernBlot
technique. By human genome project we have been able to code all the Amino acid. Thus
knowing the defective Amino acid, we’ll be able to identify the defective genotype.
The western blot (sometimes called the protein immunoblot) is a widely used analytical
technique in molecular biology, immunogenetics and other molecular biology
disciplines to detect specific proteins in a sample of tissue extract.
Immunological Method
Immunity is the ability of our body & cells to resist invasion by foreign objects, be the cellular,
viral or chemical. These immune reactions can be traced to gene action.
Immunogenetics is concerned with

the inter relation of heredity, disease
& the immune system & its
components
As there are millions of potential
antigens, there are many millions of
species of antibody molecules that are
synthesized by immune system. This
variation in the antibody are made use
of in immunological method.
Method:
1.Some antigen is injected into man & antibodies are separated & purified.
✓ Such antibodies have been studied & their amino acid composition
identified.
✓ It has been found that antibodies elicited by different individual differ in
amino acid composition of different chains.
2.Such antibodies, injected into experimental animal, in which it will behave as antigen.
3.The antibody produced by the animal that is antiserum is taken.
4.With this anti sera blood samples can be tested & one will observe how humans differ
in genetic variability.
Ex: ABO blood grouping is done using this method.
ABO blood group system

✓ ABO blood group system, the classification of
human blood based on the inherited
properties of red blood cells (erythrocytes) as
determined by the presence or absence of the
antigens A and B, which are carried on the
surface of the red cells.
✓ Persons may thus have type A, type B, type O,
or type AB blood.
✓ The A, B, and O blood groups were first
identified by Austrian immunologist Karl
Landsteiner in 1901.
✓ Landsteiner found that there are… Blood
containing red cells with type A antigen on
their surface has in its serum (fluid) antibodies
against type B red cells. If, in transfusion, type
B blood is injected into persons with type A
blood, the red cells in the injected blood will
be destroyed by the antibodies in the
recipient’s blood.
✓ In the same way, type A red cell will be destroyed by anti-A antibodies in type B blood.
✓ Type O blood can be injected into persons with type A, B, or O blood unless there is
incompatibility with respect to some other blood group system also present.
Note: Blood group O is the most common blood type throughout the world, particularly among
peoples of South and Central America. Type B is prevalent in Asia, especially in northern India.
Type A also is common all over the world; the highest frequency is among Australian Aboriginal
peoples, the Blackfoot Indians of Montana, and the
Sami people of northern Scandinavia
RECOMBINANT DNA TECHNOLOGY

(DNA closing/Molecular cloning /gene cloning)
The transfer of a DNA fragment of interest from one organism to a self replicating genetic
element such as a bacterial plasmid.
The most common application of recombinant DNA is
in basic research, in which the technology is important PLASMID: a genetic structure in a
to most current work in the biological and biomedical cell that can replicate
sciences. Recombinant DNA is used to identify, map independently of the
and sequence genes, and to determine their function. chromosomes, typically a small
rDNA probes are employed in analyzing gene circular DNA strand in the
expression within individual cells, and throughout the cytoplasm of a bacterium or
tissues of whole organisms. Recombinant proteins are protozoan. Plasmids are much
widely used as reagents in laboratory experiments and used in the laboratory
to generate antibody probes for examining protein manipulation of genes.
synthesis within cells and organisms.
Recombinant DNA (rDNA) molecules are DNA molecules

formed by laboratory methods of genetic recombination to
bring together genetic material from material source,
creating sequences that would not otherwise be found in
biological organisms. It is possible because DNA molecules from all organism share the same
chemical structure.
Process of Genetic Engineering:

1. DNA molecule is Brocken at desired places to obtain a specific DNA segment (or)
gene.
2. This segment is inserted into another DNA @ a desired position. Resultant DNA is
rDNA and the process called genetic engeneering.
3. rDNA is allowed to multiply in host cell-to obtain multiple copies of specific DNA
(or) gene.
Steps involved in recombinant DNA tech.

(1) Generation of desired DNA Fragment:
• Which is to be cloned.
• Achieved by restriction
enzymes
(2) Obtaining of vector to carry the
desired gene:
• A vector is a carrier of foreign
DNA molecule which can
replicate independently with in
host organism to produce.
Multiple copies of foreign DNA
are also produced.
• Types of vector
• (a) plasmid
• (b) bacteriophages
• (c) Cosmids (plasmid which has
all but the minimum vector
DNA necessary for its
multiplication)
Plasmid is most commonly used because.

✓ Plasmid possess little number of sites where restriction enzyme can act.
✓ Carry genes for resistance to particular antibodies.
✓ Occur naturally in bacteria & consists of circular double stranded DNA
(3) Recombination of Foreign DNA fragment with the DNA of vector.

• Restrictive enzyme is used to cut DNA plasmid for desired gene to obtain sticky
end. That is identical complementary ends.
• Plasmid DNA combined with foreign DNA fragment – enzyme ligase
• This results in rDNA molecule
(4) Transfer of rDNA to host organism (Bacteria):
• Organism made to multiply

• Plasmid with rDNA starts multiplying in host
• As bacteria divide large number of identical copies of (clone) foreign DNA will be
obtained.
Application :
1. Preparation of chromosome maps & analysis of DNA sequence & gene structure.
2. Diagnosis of genetic disorders → Done by restriction mapping
3. Detection of sex of the foetus
4. Prepare DNA probe which help in identifying
✓ DNA of any micro orgasm.
✓ Mutation or changes in any gene
✓ Used in DNA finger printing.
5. Production of drugs like insulin, Blood clothing factors, growth hormones’ etc.
6. Gene the therapy
Notes
Mendelian Genetics
This chapter is very important on two counts. One, exam point of view, where 15 or 25
marker definitely comes. Second, understanding of Mendel genetics is the basis for all
further chapters.
Let’s learn some basics, shall we..
Primarily learn the difference between two major branches (IMPORTANT)
MENDELIAN GENETICS
The branch of genetics which deals with the study of pattern of transmission of genes from
parents to progeny in a single family cross pedigree. Here the unit of study is
family/individual. The main aim is to determine the mode of inheritance of phenotypes in
humans.
Methods used: Family study, Pedigree analysis, Twin/co-twin methods etc
Useful in predicting the pattern of inheritance of THE TRAIT under study.
POPULATION GENETICS
Evolution - change of allele
It is the branch of genetics which studies of genetic frequency from 1 generation to
structure of Mendelian Population. another.
• Gene & gene frequency & the forces that
governs their change over generation.
• Most important aspect- construction & testing of mathematical models.
Useful for evolutionary biologists who study evolution.

*Basic Mendelian principles are equally applicable to population.
Mendelian Genetics Population Genetics

1. Deals with study of pattern of transmission of It deals with study of pattern of transmission of genes
genes from parents to the progeny in a single from parental to progeny by all the members of
family/cross/pedigree Mendelian population (one generation to another
2. Unit of study family or individual The unit of study is population
3. Result of specific mating are followed from Involves study of all the possible mating among
parents to progeny generation & so on in members of a population in terms of gene & genotypic
terms of genotypic & phenotypic ratio frequencies.
4. Primarily centres on genotypic & phenotypic Uses mathematical models to describe the changes in
ratios usually do not require complicated the genetic composition of a population from 1
mathematical formula generation to another.
Mendel’s Laws/Principles of Inheritances
Gregor Mendel was an Austrian monk who developed the principles

of inheritance by performing experiments on pea plants
▪ First, he crossed different varieties of purebred pea plants,
then collected and grew the seeds to determine their
characteristics
▪ Next, he crossed the offspring with each other (self-
fertilization) and grew their seeds to similarly determine
their characteristics
These crosses were performed many times to establish reliable
data trends (over 5,000 crosses were performed)
As a result of these experiments, Mendel discovered the following things:
1. When he crossed two different purebred varieties together the results were not a
blend – only one feature would be expressed
▪ E.g. When purebred tall and short pea plants were crossed, all offspring
developed into tall growing plants
2. When Mendel self-fertilised the offspring, the resulting progeny expressed the two
different traits in a ratio of ~ 3:1
▪ E.g. When the tall growing progeny were crossed, tall and short pea plants were
produced in a ratio of ~ 3:1
From these findings, Mendel drew the following conclusions:

▪ Organisms have discrete factors that determine its features (these ‘factors’ are now
recognised as genes)
▪ Furthermore, organisms possess two versions of each factor (these ‘versions’ are now
recognised as alleles)
▪ Each gamete contains only one version of each factor (sex cells are now recognised to
be haploid)
▪ Parents contribute equally to the inheritance of offspring as a result of the fusion
between randomly selected egg and sperm
▪ For each factor, one version is dominant over another and will be completely
expressed if present
While there are caveats to

Mendel’s conclusions, certain rules
can be established:
1. Law of Segregation: When
gametes form, alleles are
separated so that each gamete
carries only one allele for each
gene
2. Law of Independent
Assortment: The segregation of
alleles for one gene occurs
independently to that of any
other gene
3. Principle of
Dominance: Recessive alleles
will be masked by dominant
alleles. in the pea plants yellow
and round are dominant traits
and green and wrinkled are
recessive. So we find only
yellow round phenotype traits
in F1 generation
1. Law of unit character:

• Mendel proposed the existence of particular unit factor for each trait.
• These factor are the basic unit of heredity & are transmitted from 1 generation to
another → Determine the various traits expressed by each individual.
• Each factor exists in 2 alternative forms
(now called alleles)
✓ Each character 2 alleles.
✓ One inherited from male parent &
the other female parent.
✓ When allele for given character are
identical – Homozygous/pure
✓ When allele for a given character
are different- Heterozygote and
condition is called heterozygous.
Understanding
Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the
same allele or different alleles. Gametes are haploid, meaning they only possess one allele
for each gene. When male and female gametes fuse during fertilisation, the resulting
zygote will contain two alleles for each gene. (Exception: Males have only one allele for
each gene located on a sex chromosome, as these chromosomes aren’t paired (XY) )
For any given gene, the combination of alleles can be categorised as follows:
1. If the maternal and paternal alleles are the same, the offspring is said to be
homozygous for that gene
2. If the maternal and paternal alleles are different, the offspring is said to be
heterozygous for that gene
3. Males only have one allele for each gene located on a sex chromosome and are said
to be hemizygous for that gene
2. Law of dominance and recessiveness
When unlike unit factor for a single character are present at a locus, one unit factor
dominates over the other, which is said to be recessive.
Phenotypes Tall Dwarf
Genotypes DD dd
Gametes D D d d
F1
Dd Dd Dd Dd
Genotype
F1
Tall Tall Tall Tall
Phenotype
In Humans : ability to taste PTC, Brown eye, Black
body & long stature are controlled by dominant unit factors, when compared to blue eyes,
albino colour & short stature.
Practical Importance: Harmful recessive character are masked by normal dominant
characters in the hybrids.
Ex: Diabetes, haemophilia etc.
However, there are a few exceptions to this rule. Major ones are given below
Incomplete dominance:
• Law of dominance does not occur universally
• Ex: Red flowered pea plant + white flowered pea
plant → pink flowers.
• The appearance of this intermediate character in F1
generation is known as incomplete dominance.
Co-Dominance.
• Occurs when the contributions of both
alleles are visible in the phenotype.
• Neither of the factor is dominant or recessive to the other.
• Ex : cattle with red coat are a crossed with cattle of white coat → roan coat
3. Law of segregation (Law of purity of gametes) or Mandel’s first law.

• During formation of gametes, the paired unit factors separate (segregate)
randomly. So that each gamete receives
one or the other with equal chance.
• If an individual contains different factors
(Heterozygous conditions) then each
gamete has a 50% probability of receiving
either of the factor with out
contamination.
• i.e. gametes produced are pure in their
character
• Heterozygous – factors maintain its purity
even though they are not expressed and is passed on to the gamete.
F1 Plant Dd
D D
Gamete
Pure For tallness Pure for dwarfness
1. Law of independent Assortment (Mendel 2nd law)

• During gamete formation, segregating pair of unit factors assort independent of
each other.
• This law states- Segregation of any pair
of unit/factors occurs independently of
all other factors.
• As a result of random segregation each
gamete receives one number of every
pair of factors.
• The segregation of one unit factor does
not influence the segregation of other
factors of the same pair.
• Then all possible combination of
gametes are formed in equal frequency.
9:3:3:1 is an ideal ratio based on
probability events involving
1. Segregation
2. Independent assortment
3. Random fertilization
Pattern of Inheritance
Observations of the way traits, or characteristics, are passed from one generation to the
next in the form of identifiable phenotypes probably represent the oldest form of genetics.
In diploid organisms each body cell (or 'somatic cell') contains two copies of the genome. So
each somatic cell contains two copies of each chromosome, and two copies of each gene.
The exceptions to this rule are the sex chromosomes that determine sex in a given species.
For example, in the XY system that is found in most mammals - including human beings -
males have one X chromosome and one Y chromosome (XY) and females have two X
chromosomes (XX). The paired chromosomes that are not involved in sex determination are
called autosomes, to distinguish them from the sex chromosomes. Human beings have 46
chromosomes: 22 pairs of autosomes and one pair of sex chromosomes (X and Y).
The different forms of a gene that are found at a specific point (or locus) along a given
chromosome are known as alleles. Diploid organisms have two alleles for each autosomal
gene - one inherited from the mother, one inherited from the father.
Within a population, there may be a number of alleles for a given gene. Individuals that have
two copies of the same allele are referred to as homozygous for that allele; individuals that
have copies of different alleles are known as heterozygous for that allele. The inheritance
patterns observed will depend on whether the allele is found on an autosomal chromosome
or a sex chromosome, and on whether the allele
is dominant or recessive.
Autosomal dominant
If the phenotype associated with a given version of a

gene is observed when an individual has only one copy,
the allele is said to be autosomal dominant. The
phenotype will be observed whether the individual has
one copy of the allele (is heterozygous) or has two
copies of the allele (is homozygous)
Autosomal recessive
If the phenotype associated with a given version of a

gene is observed only when an individual has two copies, the allele is said to be autosomal
recessive. The phenotype will be observed only when the individual is homozygous for the
allele concerned. An individual with only one copy of the allele will not show the phenotype,
but will be able to pass the allele on to subsequent generations. As a result, an

individual heterozygous for an autosomal recessive allele is known as a carrier.
Sex-linked or X-linked inheritance
In many organisms, the determination of sex involves a pair of chromosomes that differ in
length and genetic content - for example, the XY system used in human beings and other
mammals.
The X chromosome carries hundreds of genes, and many of these are not connected with
the determination of sex. The smaller Y chromosome contains a number of genes
responsible for the initiation and maintenance of maleness, but it lacks copies of most of
the genes that are found on the X chromosome. As a result, the genes located on the X
chromosome display a characteristic pattern of inheritance referred to as sex-linkage or X-
linkage.
Females (XX) have two copies of each gene on the X chromosome, so they can be
heterozygous or homozygous for a given allele. However, males (XY) will express all the
alleles present on the single X chromosome that they receive from their mother, and
concepts such as 'dominant' or 'recessive' are irrelevant.
A number of medical conditions in humans are associated with genes on the X chromosome,
including haemophilia, muscular dystrophy and some forms of colour blindness.
SINGLE FACTOR INHERITANCE:

(Mendalian trait) (Discrete traits/traits of simple inheritance, Polymorphic trait )
Introduction: Within a population, there may be a number of alleles for a given gene.
Individuals that have two copies of the same allele are referred to as homozygous for that
allele; individuals that have copies of different alleles are known as heterozygous for that
allele. The inheritance patterns observed will depend on whether the allele is found on an
autosomal chromosome or a sex chromosome, and on whether the allele
is dominant or recessive.
Mendalian trait are controlled by alleles at one genetic locus.
Currently more than 4000 human traits are known to be inherited according to simple
mendelian principles. Examples include several Lets try to understand this with an
blood group system such as ABO example of ABO system
✓ Alleles follow mendalian principles/Laws i.e ABO Blood system is governed by 3
Dominance, recessiveness, codominance— alleles A, B and O found @ the ABO
when 2 different alleles occur in locus on the 9th chromosome. These
heterozygous condition alleles determine which ABO blood
✓ Environment has no role to play type an individual has by coding for
✓ Mendelian traits are said to be discrete or the production of special substances
discontinuous because their phenotypic called antigens on the surface of red
expression do not overlap; rather they fall blood cells
into clearly defined categories ✓ Antigen A only → A blood
✓ For ex: Mendel’s pea plants were either group.
short/tall but none were intermediate in ✓ Antigen B only → B blood
height. Similarly in ABO system, the 4 group
phenotypes are completely distinct from ✓ A & B Antigen → AB blood
one another group
✓ In other words, mendelian traits do not ✓ No Antigen → O blood group
show continuous variation, ie it shows/ Hence in this example there is only 1
occur in discrete categories. genetic locus → which is in the 9th
✓ The inheritance of single factor or chromosome → occupied by any of
unifactorial inheritance can be analyzed by the 3 alleles (A, B or O)
the pedigree method. It is the simplest
inheritance pattern.
Character determined by alleles, occupying a single locus in known as single factor

inheritance.
Multifactor inheritance in man
In single factor inheritance differences in phenotype results from alternative genotype of a

single gene. However many traits in humans are influenced by multiple genes as well as the
environment. There traits are known as complex trait (or) multifactorial traits.
Because of multiple genetic & environment factors implicated in their causation, they are
said to show complex inheritance.
The inheritance is complex because a single genotype can have many possible phenotypes
(depending on environment) & a single phenotype can include many possible genotype.
Therefore, the phenotype of an individual is influenced by

(a) Genetic factors → in the form of alternative genotypes of one or more genes.
(b) Environment factors → in the form of conditions that are favourable or unfavourable
for the development of the trait.
An example is human height and weight. A number of genetic factors within the individual
may predispose them to fall within a certain height or weight range, but the observed height
or weight will depend on interactions between genes, and between genes and
environmental factors (for example, nutrition). Traits in which a range of phenotypes can be
produced by gene interactions and gene-environment interactions are known
as complex or multifactorial.
Three complex traits are frequently found to have complex inheritance they are:
1. Quantitative (or) continuous trait
• Traits vary continuously from one phenotypic extreme to the other with no
clear cut breaks in between.
• Ex: Height, Weight, Blood Pressure etc
• As there is a continues gradation from one
phenotype to the next, there are called
continuous/ quantitative trait
2. Categorical traits
• Phenotype corresponds to any one of a number
of discrete categories.
• Typically phenotype corresponds to a count
• Ex: number of skin ridges forming the finger
prints.
3. Threshold traits
• These traits have only 2 or few phenotypic classes but their inheritance is
determined by effects of multiple genes acting together with environment.
• In many threshold trait disorders the phenotypic classes are affected & not
affected. Ex:- onset of diabetes, schizophrenia, congenital abnormality
• 2 or more pairs of allele which have cumulative affect & govern quantitative
character.
Continuous polygenic inheritance/quantitative inheritance
Characteristics that are determined by an interaction of genes on several chromosomes or

at several places on one chromosomes is called Polygenic inheritance.
• Unlike mendelian trait, polygenic traits have a wide range of phenotype expressions
that form a graded series.
• These are also called continuous trait
• While mendelian traits are governed by only one genetic locus, polygenic
characteristic are influenced by allele at several loci, with each locus making a
contribution to the phenotype.
Lets try to understand this with an Example- skin colour

One of the important factor influencing skin colour is the amount of melanin pigment
present. It is believed to be influenced by atleast 3 and 6 genetic loci, with each locus
having at least 2 alleles, neither of which is dominant. Individual having only alleles for
more melanin production have the dankest skin. Those having only alleles that code for
reduced melanin production have very fair skin.
In this system as in some other polygenic systems, there is an additive effect. This
means that each allele that code for melanin production makes a contribution to increased
melanization. Likewise each allele coding for reduced melanin production contribute to
reduced pigmentation. Therefore the effect of multiple alleles at several loci, each making
a contribution to individual phenotypes is to produce contributions variation from very
dark to very fair skin within the species.
See figure…..
• Polygenic trait actually account for most of readily observable phenotypic variation
seen in humans & they have traditionally served as basis for racial classification
• In addition to skin colour, polygenic inheritance in humans is seen in hair color, weight,
stature, eye colour, shape of face, shape nose, & finger pattern.
• Because most exhibit continuous variation they can be measured (ie traits) on a scale
composed of equal increments. For Ex-height, measured in feet or inches. If one were
to measure it in large number of individuals, the distribution of measurement would
continue uninterrupted from the shortest to the tallest → this is what is meant by
continuous trait.
• Environment has an important role to play. Genotype sets limits & potentials for
developments, but it also interacts with the environment ex- growth and nutrition.
(Gene sets limit of height, but also depends on nutrition, disease and other
environment factors to realise the true potential of height)
• Even in polygenic characteristic mendalian principles still apply at individual loci. It is
the contribution of the alleles at all the loci interacting with the environment that
results in observable phenotype expression.
H.Nilson-Ehle developed the multiple gene Hypothesis to explain the genetic mechanism for
qualitative/ polygenic inheritance.
In case of skin colour- the presence of melamine pigment in skin determines skin colour. The
amount of melanin pigment in the skin is determined by its 2 pairs of genes. Each
contributing gene is responsible for the synthesis of fixed amount of melanin & hence the
amount of melanin produced is always proportional to the number of contributing genes
Lethal and sub-lethal inheritance in Man
The effect of various genes on survival ranges from an increase in survival, through no effect,
to death of all individuals carrying the gene.
Lethal gene is a gene that cause death of all the individual carrying this gene in appropriate
genotype before they reach adulthood
Appropriate genotype- depend on its dominant relationship with other alleles
Lethal genes exert their effect at different times & different stages in the life cycle by
interfering in the production of the gene product. The time of death will depend on-
✓ When the product is essential for life.
✓ Whether the gene is in a position to produce the gene product or not.
✓ If produced whether it is sufficient quantities or not.
Most of the lethal are recessive lethal & they exist among us in carrier state. Hence to
eliminate lethal genes from the population → identifying the carriers & preventing them from
mating (or) breeding.
Based on the nature of Lethal they can be classified into:

(a) Genetic Lethal: The genes which makes genetic in viable (or) makes them incapable
of fertilization. This will alter the typical ration expected in a segregating
generation & this phenomenon is called as segregation distortion or meiotic drive.
(b) Sub Lethal: The genes which kill the possessor before attaining reproductive age.
(c) Semi Lethal: Those genes which kills the possessor after attainment of
reproductive age. Ex:- Huntington disease (40 years)
Lethal Genes can be classified into:-

1. Incomplete dominant lethal.
2. Dominant lethal
3. Recessive lethal
4. Conditional lethal.
1. Incomplete dominant lethal:

✓ Lethal in Homozygous condition.
✓ In Heterozygous state produce some
abnormal phenotypes & cause death only if
they are serious.
✓ Example: sickle cell anaemia (Gene-Hbs)
Sickle cell disease – Lethal homozygous condition

Sickle cell trait- Heterozygous condition – mild anaemia & causes sickling only in oxygen
deficiency.
2. Dominant lethal:
✓ Lethal in both Homozygous and heterozygous conditions
Example:
(i) Huntingtous chorea in Man-
➢ Semi- lethal disease.
➢ Expressed even when a single dominant
allele is present.
➢ Expressed only in middle age usually after 40
years.
➢ Suffers from muscular failure, mental
retardation & finally death.
➢ Due to-dominant autosomal H chromosome
(ii) Epiloia lethal inheritance (sub lethal)
➢ Expressed before individual reaches reproductive age- Hence even though
dominant cannot be maintained in the population
➢ Has to be produced in every generation by mutation.
➢ Causes abnormal skin growths, severe mental defects & multiple tumour.
3. Recessive Lethal
➢ Those genes which causes death only in homozygous conditions.
➢ The survival of the heterozygotes is unaffected.
➢ However many genes in heterozygote show Dominant phenotypic effect and
Recessive lethal effect.
➢ Example: Achondroplastic Dwarfism, xeroderma pigmentosum, Hemophilia.
4. Conditional Lethal
➢ Those genes which may be normal in particular environment & may prove lethal
when environment is changed.
➢ Ex: xedroderma pigmentosum → condition is Light
➢ Ex: Phenyketonuria → nutrition
➢ Ex: erythroblastosis foetalis (Rh haemolytic disease) → Father is Rh positive and
mother is Rh negative.
Application of Mendel’s laws to Humans
(1) Determination of blood groups → ABO & RH

(2) Determination of sex of the child.
(3) Pedigree analysis based on which dominant & recessive, sex linked disorders can be
predicted.
(4) Medico legal application- paternity dispute by using a rare allele; like different blood
groups like kidd, Rh, ABO, MN, Duffy
(5) Medical : gives idea about aetiology of disease Ex: Genetic disorders and their
inheritance.
(6) Genetic counselling
(7) Production of Hybrid verities of plant and animals
Limitation :
✓ Reproduction & transmission is too complex in human.
✓ Period of development is long to study & size of family is small
✓ Ethical issues
Biological Significance of Mendels Laws

1. Science of Eugenics: for betterment of human race.
2. In obtaining disease resistant varieties of plants.
3. Verities of Breed obtained by cross breeding
✓ Breeds of Animal/plant with better production & productivity
✓ Disease resistant.
4. Explain the inheritance pattern of qualitative traits.
5. Understand the function and behaviour of genes (in the name of factors)
NOTES
DEVIATION FROM MENDEL’S LAWS:

1. In contrast to Mendelian genetics, two (or) more genes are known to influence the
phenotype of a single character. The term gene interaction is often used to describe
the idea that several genes influence a particular character.
Epistasis is an example of gene interaction → occurs when the expression of one gene
or gene pair masks or modifies the expression of another gene (or) gene pair situated
at different locus.
2. Presence of genes on sex chromosomes, where by one of the sexes contains only a
single number of that chromosome ie sex linked inheritance
Ex: color blindness, G6PD deficiency, Haemophilia A,B
3. In some cases the sex of the individual plays a determining role in the expression of
certain phenotype → sex influenced character
Ex: Baldness in humans. Here the expression of genes is dependent on the hormonal
constitutions of the individual
Phenotype
Genotype
Male Female
BB Bald Bald
Bb Bald Non Bald
Bb Non Bald Non Bald
4. Sex limited characters: expression of a specific phenotype is limited to one sex only
ex:- milk production in females.
5. Quantitative/polygenic inheritance-
interplay of genotype & environment.
6. Extra nuclear inheritance- expression of
mitochondria genes, modifies mendelian
inheritance patterns. Such genes are
most often transmitted though the
female gamete
7. Genomic/Parental imprinting:
Phenotype depends on silencing of one
or the other number of a gene pair
following fertilization, depending on the
parental origin of the chromosome on
which a particular allele is located
8. Inheritance of lethal genes & polygenes.
9. Pleiotropy
Some are explained below

Pleiotropy:
• It is a situation where a single gene influence more
than one phenotype expression
• Ex: disorder phenylketonuria. Sicke cell disease
Penetrance :
• The % of individuals expressing the character for a
particular genotype
• If all individual express the character for a
particular genotype- complete penetrance
Ex; Mendel tall & Dwarf plant
• Only few express – incomplete penetrance ex:-
blues eyes (gene BB produce blue eye in about
90%)
• Penetrance is influenced by environment factors
such as food, light, temp etc.,
Expressivity
• Variation in degree of expression of a particular gene.
• Due to influence of environment factors on genes
• Ex: vestigial wing in Drosophillia
o 72◦F- All develop typical vestigial wing
o 80◦F- wings slightly longer
o 88◦F- Still longer
Epistasis:
• It is the interaction between genes in which one gene marks, inhibits or suppresses
the expression of other genes.
• The gene that suppresses the other factor, is known as epistatic factor, a inhibiting
factor & the one which is prevented from exhibiting Itself is known as hypostatic
• Ex:- Bombay phenotype – homozygous recessive condition at one locus masking the
expression of a second locus.
Mitochondrial inheritance
Mitochondria are cell organelles are scattered throughout the cytoplasm of animal and plant cells. They
also contain DNA and their DNA is replicated as part of the process of mitochondrial division.
An important point to note is that during fertilization of egg by sperm, only the nucleus of sperm enters
the egg (10th biology). So a newly formed embryo receives all its mitochondria from the mother through
the egg cell, so MITOCHONDRIAL INHERITANCE IS THROUGH THE MATERNAL LINE.
Population Genetics
Introduction
Living organisms are endowed with unique abilities, traits that allow them to survive
in a given environment. These traits or abilities may show or exhibit enormous variations
within species and across species. Some of these traits are unique to that species; some traits
are common within and across species with little variation, these are adaptive characters and
gives survival advantage.
These traits are the
‘phenotypic’ forms that can be
observed as a quantitative trait (or
measurable) or classified as types or
categories. These traits are
hereditary and transmitted across
generations: either in the same
form or in slight variable form. At
times some new traits or variations of the trait appear among the offspring. Some of these
traits are governed by ‘genes’ or located in the ‘genome’ of an organism. The nature of
heredity of some of these traits could be complex and/or it could follow some simple
principles of transmission.
Human population genetics deals with how these traits or variation change in a
population over space and time (generations)? What are the factors that influence the
variation of these traits in the population? To what extent these traits are hereditary and are
influenced by environment? Can we understand them by simple theoretical models? Can we
study how different forces operate differentially in different populations to give a
characteristics distribution of gene and genotype frequencies?
Population genetics is the study of gene and genotype frequencies in populations of
interbreeding organisms (small or large, natural or artificial) and predicting the way these
frequencies are maintained or changed under the combined influence of various factors.
It is concerned with applying models of gene frequency change involving different factors in
the context of Mendelian genetics to examine evolution in a quantitative manner. In order to
understand the pattern of allele frequencies we need to have a defined population, in this
case a ‘Mendelian population’. Dobzhansky (1951) defined it as the reproductive community
of individuals which share a common gene pool.
Evolutionary studies involve reconstructing past demographic events that have led to
the present day diversity patterns. Use of various models allows one to examine interplay of
various factors and make inferences about the past based on present day data.
Let’s understand some terms and concepts-
Mendelian Population
A group of sexually interbreeding individual is known as Mendelian population. It may be
defined as “ a community of similar individual, living with in a circumcised area, at a given
time & capable of interbreeding”. Gene pool: The sum of all the genes
❖ Characterized by having individuals who have possessed by a Population
similar genetic constitution or gene constitutes the gene pool of that
composition. Population
❖ Population possesses a given gene pool and Genotypic frequency: It is the
that the interbreeding members of the proportion of the genotypes in the
Population have a free access to all Population
components of the pool ie there is free flow of Gene frequency: It refers to the
genes proportion of an allele in the gene
Thus mendalian Population is a reproductive pool as compared with other alleles
community of sexual & cross fertilizing individuals at the same locus.
which share a common gene pool
In the study of mendalian Population we are concerned with
❖ The properties of the gene pool.
❖ The ways of changing the composition of the gene pool.
The branch of genetics that deals with the study of genetic structure of mendalian Population
is known as Population genetics.
❖ Genotype & gene frequencies of one Population can be compared with the genotype
& Gene frequencies of another Population for its concordance using chi-square test.
❖ Mendalian Population is dynamic. It Expand and contract through :
✓ Birth
✓ Death
✓ Contact with other Population → migrate
✓ Selection → individual within the Population will reproduce more than other,
contributing a disproportionate quantity of the alleles to next generation.
This dynamic nature, over time lead to change in the Population gene pool.
Kinds of genotypes & their frequency in one generation depends on the kind of genotypes &
frequency in previous generation. Thus the mendalian Population has continuity through
time.
Local Mendalian population:

Species is the Largest Natural population. It is broken down into smaller reproductive
Populations or smaller gene pool. In humans this could be on the basis of Race, Geography,
Linguage, Religion, Socio-economic conditions, education etc. These smaller gene pool is
called by different names Panmitic unit/ Local mendelian Population / Gamodene/ Deme
Local Population of interbreeding or potentially interbreeding individual in a given locality
With the help of statistics the phenotype of whole Population can be given.
Ex: average stature of a Population can be calculated & the variation from that average can
be noted.
A Population is said to be evolving, if the frequencies of it alleles are changing. If it is not the
situation is known as Genetic equilibrium. (Hardy & Weinberg Equilibrium)
Genetic property of MP is influenced by

1. Size of Population
2. Difference in fertility among parents & viability among offspring generation.
3. Migration
4. Mutation
5. Selection
6. Mating system.
Genetic Polymorphism:
Definition: The occurrence together in the same locality of two or more discontinuous forms
of a same species in such proportions that the rarest of them cannot be maintained by
recurrent mutations.
A gene is said to be polymorphic if more than one Differences between gene
allele occupies that gene’s locus within a population. polymorphism and mutation. A rule
In addition to having more than one allele at a of thumb is → genetic variants that
specific locus, each allele must also occur in the occur below 1% allele frequency is
population at a rate of at least 1% to generally be mutations rather than
considered polymorphic ie It is the occurrence of polymorphisms.
more than one gene for a particular trait.
Criteria to call GP
Genetic traits which occur fairly regularly in a frequency more than 1%, then assured
that selection is involved. If less that 1% its by mutation. So those which occurs regularly →
at least 1-5% in the population & whose frequency is too common to be repeated generation
to generation through mutation.
Significance of genetic polymorphism study :
Many variations are present at the genetic level which are not seen as phenotypic
expressions. The polymorphic or discontinuous traits are controlled by single genes or closely
linked genes (super genes) acting together as a unit. These are less modified by environment.
Hence, by examining the discrete, discontinuous variations we can study the genetic
polymorphism existing in the population without examining their DNA or chromosome.
Ex:
(1) 13-14 Human blood cell systems ABO, Rh, MN
(2) 160+ Red cell antigens
(3) 30+ serum proteins- haptoglobins, transferrins
(4) Haemoglobin molecule.
Source of genetic polymorphism: manifestation of evolutionary process

(1) Mutation supplies the genetic material
(2) On this selection operates & continues in the population
(3) Other sources like migration also introduces new genes or leads to genetic
recombination.
Type of genetic polymorphism
(1) At cell surface-due to presence of antigenic molecules- ABO antigens

(2) At proteins level – Haemoglobin
(3) Level of DNA- VNTRs.
*The particular type of variant is maintained by selection in that population.

GENETIC POLYMORPHISM AND NATURAL SELECTION
The role of natural selection and its relation to GP is unclear. Debate exists on whether any
relation exists at all between polymorphisms & evolution. The various roles played by GP.
(1) Permanent polymorphism and stabilizing selection.
✓ Some are more or less permanent and important for survival.
✓ Stable polymorphic features are maintained in the population by stabilizing
selection which removes individuals deviating from the population mean.
✓ Thus inter sexes are removed & only 2 discrete individuals with reference to
sex- male & female are maintained
(2) Transient polymorphism & direction selection
✓ when there is shift in population mean for
some character due to direction of Scientists like kimura →
environment change selectively neutral
✓ Eg:- industrial melanism in moth, HbS in polymorphism. Ie majority of
malaria effected areas polymorphic traits have no
(3) Balanced polymorphism & heterozygote role vis –a - vis natural
selection/ superiority of heterozygotes- selection.
✓ Due to vigour of heterozygotes
✓ Ex:- sickle cell → homozygous is fatal but sickle cell trait is less fatal and it also
provides advantage in malaria infected areas.
Polymorphism thus provides with alternative set of a traits of a character which is

important for adaptive success in changing environment. Hence Genetic
Polymorphism is a potential solution for future environment. GP is a predisposition of
the population to adaptation.
Hardy Weinberg law or Principle Population Theorem.
The law states that allele and genotype frequencies in a population will remain constant
from generation to generation in the absence of other evolutionary influences. These
influences include genetic drift, mate choice, assortative mating, natural selection, sexual
selection, mutation, gene flow, meiotic drive, genetic hitchhiking, population bottleneck,
founder effect and inbreeding.
✓ If certain disruptive forces are not

in operation, the relative
proportions of alleles of a gene
locus remains in constant
proportion to each other in every
succeeding generation.
The Hardy Weinburg law states that in

a panmitic randomly mating Population with out disruptive influence, the frequencies of
alleles of a gene remain unchanged in every generation, but if this equilibrium is disturbed in
some manner the genotype frequencies reach a new equilibrium value in one or more
generation depending on the nature of the disrupting influence.
This is law is considered as a corner stone of Population genetics because it
mathematically statistically describes the behaviour of the genetic traits through time within
a Population.
BASIC CONCEPTS
Phenotype : A trait or a character that is observed as types or measurable and is
transmitted from parents to offspring. Some phenotypes are complex with unknown
genotypes, and some are directly governed by hereditary units (genes).
Gene : The causative factor of hereditary transmission of traits (phenotypes) and are
located in the chromosomes (the hereditary materials in cell nucleus and in mitochondria).
Allele : Genes, the causative factor of hereditary transmission can exist or express in
different forms and are referred as ‘alleles’.
Codominant: Where both the alleles are equally expressive in the offspring.
Recessive: The alleles whose expression is suppressed at phenotypic level. The

heterozygote offspring of a recessive allele will express the phenotype of the dominant
allele.
Haploid: Organisms which carry one set of chromosomes.
Diploid: Organisms which carry two sets of chromosomes, each set derived from either of
the parent. Man is diploid and carries two sets of chromosome (2N).
A diploid individual can carry two copies (alleles) of the gene in each of the chromosome
that he or she gets from his or her parents. The two copies could be of the same type
(form/status) or of different type (form/status).
Homozygous: The two alleles that an individual carries are of the same or identical types.
Heterozygous: The two alleles that an individual carries are of different type.
Genotype : Is the combination of alleles that a diploid individual can carry in each of the
chromosomes.
For example, in case of a ‘biallelic’ gene say A, B two forms (alleles) of the gene that occur
in each of the two sets of the chromosomes. There could be three different genotypes: AA,
AB, BB.
AA and BB : two different homozygotes (genotype).
AB = BA : heterozygote (genotype).
Polymorphism: If a gene exists in more than one form or morph (alleles) and that occurs in
stable frequency in a population.
HARDY-WEINBERG EQUILIBRIUM
A population with constant gene & genotypic frequency is said to be in H.W. Equilibrium
The law provides a simple algebraic formula to calculate expected gene & genotype
frequencies in a population as this law is a relationship between the gene frequencies & the
genotype frequencies.
H.W. Equilibrium can be expressed as
P2 + 2PQ + Q2 = 1
Where P = [A] [AA]= P2 [Aa] = 2PQ

Q = [a] [aa] = Q2
A and a are the allelic form of one gene. Brackets are used to indicated ‘frequency of’
It presents a (hypothetical) situation of no change.
Example:
Phenotype tall Dwarf

Genotype TT tt
F1 Tt Tt
Self-fertilization
F2 TT Tt Tt tt
Here,
The frequency for the alleles
TT ie [TT] = ¼,
Tt ie [Tt] = 2/4
tt ie [tt] = ¼
Applying to H.W. formula allelic frequency of TT, Tt and tt add up to 1. This is ideal model
for the genetic equilibrium
CERTAIN CONDITIONS HAS TO BE MET WITH IF THE POPULATION IS TERMED
GENETIC EQUILIBRIUM. THEY INCLUDE:
1. Population should be infinitely large & mates at random (panmitic) ie every genetic is
assumed to have an equal opportunity of fusing with any other gamete of the opposite
sex resulting in a viable & fertile offspring
• The population if below certain sample size may not be representative of the
entire species. There will be significant sampling error if the population are not
large enough.
• Moreover, in the population which are small sudden random changes might have
a significant evolutionary impact by drastically changing the gene frequencies.
2. No selection in operative, ie each genotype under consideration can survive just as
like any other (no differential mortality) & each genotype is equally efficient in the
production of progeny (no differential reproduction).
3. Population is closed, no immigration/emigration
4. No mutation from one allelic state to another. Mutation may be allowed if the forward
& backward rates are equivalent
5. Meiosis is normal, so that chance is the only factor operative in gametogenesis
6. Sex must be equally distributed
7. Mating should be equally fertile. The mating in the population must produce the same
number of viable offspring.
8. Lack of evolutionary forces.
Significance:
Deviation from the equilibrium show that one or a combination of these condition is not being
met. The fact that they are not in equilibrium indicate that no population is a perfect ideal
type ie there are factors that bring about change in gene frequency.
It is quantitative way of understanding the mechanism of evolutionary factors and its

influences. Evolution is a dynamic and complex phenomenon and it is hardly possible to study
evolution in the laboratory conditions. It gives insights into the inter-relationship between
the forces and how to study the effects of each of these forces and the gene frequency.
It helps us in genetic counselling to expect the likelihood of a child being homozygous
for a recessive deleterious trait given the parental genotype. It helps in forensic science in
cases like identification of suspects, parent- offspring disputes etc.
Quantitative Genetics: HWE helps us to investigate complex genetic traits, to estimate
the role of environment and genetic components, spatial distribution of gene frequency etc.
For example, HWE has helped us to find out to investigate the number of alleles of ABO locus
and how to calculate the gene frequency of ABO locus
It helps in understanding the complex genetic disorders, to be able to estimate the
contribution of genetic versus environmental effects. HWE helps to understand to investigate
the human origins, the role of selection versus demographic effects on the genetic diversity
in a population.
Properties of Hardy-Weinberg Law

1. A population practicing random mating in the absence of migration mutation &
selection will be under Hardy Weinberg equilibrium.
2. The genotypic frequencies of the progeny depends only on the gene frequencies of
the parents & not on the genotypic frequencies.
3. One generation of random mating will produce the population under H.W.
Equilibrium.
4. The frequency of heterozygote in the population will not be greater than 0.5
5. When the gene frequency of an allele is low, the rare allele occurs predominantly into
the heterozygotes & less in homozygotes
Forces which change Gene Frequency
We cannot expect any change in gene frequency in Medelian Population with Hardy
Weinberg Equilibrium conditions, but natural population were not static as were assumed
but they changed due to changes in gene frequency.
In other words gene and phenotypic frequency remain constant under panmixia (random
mating) unless upset by certain forces.
According to falconer broadly- there are two processes through which changes in gene
frequency occurs.
1. Systematic process (directional changes)
• The forces, which tends to change allelic frequency in a manner that is predictable
both in amount and direction.
• It includes - Migration, Mutation & selection.
• Directional manner → they tend to either reduce or increase the allelic frequency.
• Act on both large & small population
2. Dispersive forces: (random changes)
• Changes in allelic frequency is predictable in amount but not in direction
• It includes- Genetic drift and inbreeding.
• Act only in small population.
• It leads to increase in homozygosity With corresponding increase in heterozygosity,
because, the dispersive forces a gene frequency from intermediate value towards
extreme value
Forces which change gene frequency

Systematic force/Directional change Dispersive force/ Random change
Gene flow/ Migration Genetic drift
Mutation Inbreeding
Selection
Act on both small & large population Act only on small population
Can predict amount & direction can predict only amount.
Gene flow
Gene flow is the exchange of genes between populations. The term migration is also
sometimes used; but strictly speaking, migration refers to the movement of people. In
contrast, gene flow refers to the exchange of genes between groups, which can happen only
if the migrants interbreed.
A group of individual from another population which can interbred with the recipient
population and which has an allelic frequency patter distinct form that of the population with
which it is merging will quickly affect the original allelic frequencies in the recipient group.
The difference in the allelic frequencies is due to → adaptation to particular environment

over a long period of time. ie certain allele are favoured than others which are selected
against.
Let m be the population of immigrants in a large population in a locality.

Qm= gene frequency among immigrants
Qo= gene frequency among natives
Q1= gene frequency in the mixed population
Q1= mQm + (1-m) Qo
=m (Qm-Qo) +Qo
Q = rate of change in gene frequency
= Q1-Qo
= [m (Qm-Qo)+Qo]-Qo
Q = m (Qm-Qo)
Thus the rate of change of gene frequency in population is subject to immigration depends
on
(a) immigrate rate (m)
(b) the difference in gene frequency between immigrants and native (Qm-Q0)
(migration coefficient )
In isolated population the difference in gene frequency is greater --- thus migration
between such population brings about a greater variation with in the species.
Gene flow. In this illustration, the colored dots represent different alleles and the circles that
contain them represent two populations.
Mutation:
Mutation is a change in DNA. There are many kinds of mutations, but here we focus on point
mutations, or substitutions of one DNA base for another. Point mutations must occur in sex
cells if they’re to have evolutionary consequences. This is because, in order for evolutionary
change to occur, the mutation must be passed on to offspring and eventually become more
common in a population.
Mutation, which changes the gene frequency are of 2 types : (a) non recurrent (b) Recurrent.
Non –recurrent mutation are rare and have little importance as they don’t bring about
detectable changes in the gene frequencies. They have little chance to survive in large
population. Unless they have selective advantage. They Do not produce permanent change
in the population. Changes in individual → equal chance of either to survive or to lose. Even
those which survive has little effect on change in gene frequency and thus it is also taken as
lost.
Recurrent mutation produces permanent change in population since the mutation
arrive fresh in every generation and generate new genetic variability in every generation. In
the large population the frequency of these mutation is never too low to be lost in sampling.
Let us assume that wild gene is A and its mutant is ‘a’. Further ‘A’ mutates to ‘a’ at U
per generation and ‘a’ mutates to A gene at V per generation.
A→a
aA
The changes in gene frequency depends on the mutation rate (U, V) both forward & backward
and not on initial gene frequency.
Such variation is the basic ingredient of evolution. The greater the genetic variation in a
population the greater the raw material at the disposal of selection agents.
Actually, except in microorganisms, it’s rare for evolution to take place solely because
of mutations. Mutation rates for any given trait are usually low. In large populations,
mutations might be observed in 1 individual out of 10,000, but by themselves they would
have no impact on allele frequencies. However, when mutation is combined with natural
selection, evolutionary changes can occur more rapidly. It’s important to remember that
mutation is the basic creative force in evolution, because it’s the only way to produce new
genes (that is, variation). Its role in the production of variation is key to the first stage of the
evolutionary process.
Understanding Point Mutation:

There are several different kinds of mutations. A point mutation occurs when a single base
in a gene is changed. A number of diseases can be attributed to specific point mutations
in the gene for a protein. One of the most well-known and anthropologically important is
the mutation that results in sickle cell disease. Sickle cell disease is caused by an abnormal
form of the protein hemoglobin, which is the protein that transports oxygen throughout
the body in red blood cells.
Hemoglobin (Hb) is a protein that consists of four polypeptide chains (two alpha chains
and two beta chains). The beta chains consist of 146 amino acids. The normal, adult
hemoglobin is called HbA. In the beta chain, the sickle cell hemoglobin, or HbS, is one
amino acid different from HbA: The sixth amino acid in HbA is glutamic acid, whereas in
HbS it is valine. This amino acid substitution is caused by a mutation in the codon from CTC
to CAC. Out of 438 bases, this is the only change. A striking feature of the mutation in sickle
cell is that it does not directly affect the ability of the hemoglobin to carry oxygen but
rather causes the hemoglobin molecules to stick together, leading to the deformed cell
shape.
Selection:
• Selection is choosing the parents for the next generation
• Under H.W. Equilibrium it is assumed individual of different genotypes have equal
viability & fertility & hence contribute equal number of genes to next generation.
• In nature however individual differ in their fertility, mating ability and viability → thus
contributing different number of offspring to the next generation.
Charles Darwin (and Wallace) has described natural selection as one of the important factor
(key mechanism) of evolution. Natural selection happens where there is differential rate of
reproductive success among different genotypes (underlying the phenotype, or trait or
observed character).
Fitness:
The capacity of a given genotype to survive & reproduce under a specific environment is
referred to as its fitness (Darwinian fitness/reproductive fitness). This is also referred as
‘adaptive value’ or ‘selective value’. Therefore, if the differences of fitness are in a way
associated with the presence or absence of a particular allele (or gene) in the individual’s
genotype then selection operates at the genetic level.
It has 2 component:-
1. Viability- the ability of a newly formed zygote of a specified genotype to survive to
the reproductive stage.
2. Reproductive ability: the ability of an individual of a given genotype to produce
offspring during the reproductive period.
✓ Viability & Reproductive ability determine the contribution of offspring of each

genotype to the next generation.
Eugenics is the science of
✓ Fitness may vary from individual to individual.
improving the human
When the difference in fitness is due to presence
species by selectively mating
or absence of a particular gene- the selection
people with specific
operates on that gene.
desirable hereditary traits.
✓ When selection operates on a particular gene its
Euphemics- Medical/
frequency is changed in successive generation
genetic intervention to
because parents of different genotypes pass on
reduce the impact of
their genes unequally to the next generation.
defective genotype
Consequently gene & genotype frequencies are
Euthenic- improve living
changed by selection. This change is brought about
condition
by fertility, viability or through Eugenics, euphonic
& euthenic measure
✓ Therefore selection may be natural or artificial. The net result of selection

is to make the population better adapted to its prevailing environment.
✓ ie Nature (environment) discriminates against survival and/ or mating success of
certain allelic combinations in particular environment so that only one or more
specific combination are favoured. These combination turn out to be the ones that
allow the strains to adapt itself to specific niches.
✓ The traits that make the successful offspring well adapted are presumed to
accumulate over generations & slowly but inevitably change the genetic structure
of the population
The alteration may result in the delineation of species or of a higher category- genus, family
& phylum. Thus selection can be viewed as
(a) A process that generates great diversity in genotype.
(b) A means of reducing variability by elimination of genotypes with suboptimal fitness
for adaptation.
Selection may be induced by: physical, chemical and biological agents Ex: Food, light,
presence of predators etc.
Selection value – (W) of a genotype
• Measure the offspring produced by it relative to those of another.
• In absolute terms- the ratio of offspring of a genotype that are viable & fertile as
compared to those of other genotypes.
• It ranges from 0 to 1 where 1 is most successful genotype & 0 is the least successful.
Further selection occurs on whole genotypes of individuals & not against individual alleles.
Therefore selective value depends on the inter relationships in the expression of all the genes
in a genotype & not specifically on one or more allele.
Types of selection
Selection is a systematic force and operates in different ways. Selection takes place when
there is differential fitness of a heritable trait. Based on the effect on the allele
frequencies, the selection can be seen operating into three types.
Directional selection: occurs one extreme allele is selected. In case if one of the allele of a
variety of the trait has greater fitness and producing more offspring of that allele or a variety,
then the selection is said to be directional. The effect of directional selection is fixation of
allele with greater fitness and the loss of the allele with least fitness. For example: well
known cases come from the parasitic world, especially resistance to antibiotics in case of
some of the vector-borne diseases. Initially as a result of antibiotic the parasite growth
comes down to zero, but the parasites develops some mutant or new variant which gets
resistance against the antibiotics or better fitness in the presence of antibiotics, in

due course, the less fit variant is replaced by new variant which can survive against
antibiotics.
Stabilizing selection: In case of stabilizing selection, the two extreme values of a trait or
alleles will have lower fitness than the intermediate value or the heterozygote alleles of a
trait. One of the well known examples includes birth weight. The average birth weight of
offspring ranges between 2500g to 4500g. Offspring with weight less than 2500g are low
birth weight and greater than 4500g are the heavy babies and both have less chance of
survival. As a result the selection favours the offspring with the average birth weight.
Stabilizing selection is also the reason in case of height distribution in a population.
Balanced Selection: In case of balanced selection, the heterozygotes have higher fitness
than either of the homozygotes. This is also called heterozygous advantage or over-
dominance. The best example is the sickle cell anaemia. In non-malarial environment the
homozygote state of the sickle cell anaemia will have low fitness and as a result the allele
gets lost in the population in due course of time. However, in malarial environment,
Homozygote sickle cell anaemic individuals have the better fitness as equal to the normal
homozygote individuals; as such both the alleles will be maintained in the population.
Disruptive selection: both the extreme value (alleles) of a trait gets selected. It is one form
of balanced selection. In case of disruptive selection, the extreme values or the alleles (low
and high) of a trait will have a higher fitness when compared to the average value. As a result
of disruptive selection the extreme values will increase as against the average values of the
trait. This can be explained as leading to bimodal distribution
Genetic Drift (or) sewall wright effect
In small population the gene frequency are found to fluctuate purely by chance & smaller are
the population greater the fluctuation. The random changes in gene frequency occurring by
chance & not under the control of natural selection is called as genetic drift (Sewall Wright
effect)
Changes in gene frequency from one generation to the other caused by chance are
referred to as genetic drift.
Genetic drift is an important non-systematic

evolutionary force. To understand the
concept of genetic drift, let us know what the
word ‘drift’ conveys, in general. One of the
descriptions for the word ‘drift’ in the English
Dictionary is: “move aimlessly from one place
or activity to another’. Similar phenomena
can also happen with respect to gene
frequency in a small population.
In small populations, as a result of population-events such as pandemic diseases, earthquakes
etc., the population size is drastically reduced which can have significant effect on the genetic
diversity and gene frequency: for example, the gene frequency can drift from one generation
to generation randomly leading to either loss or fixation of alleles over generations. In small
populations or due to demographic and ecological effects the population size drastically
reduced to a fraction (or a random sample) of the original population with allelic
representation different from the original population. In these cases, there will be random
changes in gene frequency, which appear to drift at varying frequencies in successive
generations in an erratic manner.
✓ Since the changes are entirely due to chance, their direction is random.
✓ There gene frequency will continue to fluctuate until one allele is lost and the other is
fixed. It means as a result of genetic drift a new mutation arising in small populations
is either lost (or) is fixed as a prevailing characteristic, because in them the
heterozygous gene pair tend to become homozygous only by chance rather than by
selection.
✓ This may lead to accumulation of certain disadvantageous character & subsequent
elimination of group possessing them.
Cause of Genetic Drift
(a) The degree of random fluctuation increases as population reduces. Therefore small
population significant random fluctuations in allele frequency are possible by chance
deviation.
(b) Founder principle: Drift can arise through the founder effect, which occurs when a
population originates from a small number of individuals. The new population may
acquire new gene frequencies & chromosome arrangements simply because its
founders possessed them.
This genetic divergence created by the limited number of founders of new populations
is called founders principle.
(c) Genetic bottleneck : Bottle-neck

develop when a large population
under goes a drastic but temporary
reduction in number. Even though
the population recovers, its genetic
diversity has been greatly reduced.
Sewall wright was the 1st to investigation the effect of random drift. (Sewall Wright effect).
He developed a mathematical model for assessing deviation in gene frequencies in
generations. According to this model, the deviation from mean frequencies of alleles can
be represented by the equation.
∑ = PQ
N
∑ = Standard deviation
P & Q = frequencies of alleles A and B
N = size of population.
Studies on Genetic Drift

Tristan da Cunha is an island; the few hundred individuals (<300) living on the island are
mostly the (15) descendants (8 males and 7 females) who had founded the island in
1816-1908. Three of the founders were Asthma sufferers and there is high incidence of
Asthma in the population.
Amish population, USA: All most all the Amish population (~249K) descended from
about 200 founders from German during 18th century. The population is endogamous,
they show high frequency of genetic disorders as a result of founder effect that include
dwarfism, metabolic disorders, unusual distribution of blood types, metabolic disorders
etc.
India: In the northeast populations, some of them live in geographical isolation, practice
endogamy show unusual frequency of a few genetic traits which are expected to be due
to genetic drift and founder effect. Some of them include:
• Complete lack of A2, cde, K, pc, and AK2 genes, lack of isozyme ALDH-1, a high
prevalence (about 50%) of lactase malabsorption.
• Low frequency of AIBG*2 allele, high frequency of G6PD deficiency in Naga (Seth
and Seth 1971), absence of ‘Gd_’ variant in Adi and Hmar and high frequency of
this variant in Bodos (Saha 1990).
• Continuing from classical genetic observations, unique and rare allele frequency of
microsatellite loci among the Adi subpopultions. High frequency of susceptibility of
tuberculosis in some clans of tribes, stomach cancer, high incidence of cardio
deaths etc.
• Absence of attached ear lobe among the Nandiwalas in Maharashtra.
• Population size reduction and allele frequency changes among Ahmedias of
Kashmir population.
Example of genetic bottle neck:
Genetically, cheetahs are an extremely uniform species, and biologists believe that at
some point in the past these magnificent cats suffered a catastrophic decline in numbers.
For unknown reasons related to the species-wide loss of numerous alleles, male cheetahs
produce a high percentage of defective sperm compared to other cat species. Decreased
reproductive potential, greatly reduced genetic diversity, and other factors (including
human hunting) have combined to jeopardize the continued existence of this species.
Other species that have passed through genetic bottlenecks include California elephant
seals, sea otters, etc.
One human example of genetic drift is provided by a fatal recessive condition called Amish
microcephaly, in which a mutation results in abnormally small brains and heads in fetuses.
The disorder is found only in the Old Order Amish community of Lancaster County,
Pennsylvania, where it occurs in approximately 1 in 500 births. Genealogical research
showed that affected families have all been traced back nine generations to a single
couple. One member of this couple carried the deleterious recessive allele that, because
of customs promoting marriage within (what was then) a small group, has greatly
increased in frequency with very serious consequences.
Inbreeding
In many societies marriages takes place between relatives. In general, breeding among close
individuals within a group is referred as ‘inbreeding’.
Mating together of individuals that are related to each other by ancestry.
In H.W. equilibrium, population under consideration
Did you know?
breeds randomly. However in actual circumstances,
In early history of mankind, e.g.,
random mating is a rarity.
in ancient Egypt, the royal
The mating between individuals are usually dictated families had followed brother-
by – proximity , choice etc and are thus restricted to a sister marriages for some
small group of individuals in the immediate generations. This was based on
neighbourhood. Smaller the size of the population, the belief that royal blood is pure
the greater is the number of common ancestors. Thus, and to maintain the purity of
blood they followed sib-sib
individual mating at random in small population are
mating. The Egyptian queen
closely related & hence result in enhanced Cleopatra is one such example of
homozygosis at the expense of homozygosity. generations of sib-sib mating in
In inbreeding – Homozygosity is attained the royal family.
very easily in several loci. If breeding is continued
systematically for several generations the progeny Charles Darwin, who married his
cousin Emma Wedgewood, had
will separate out into separate stocks, each
of the opinion: it is likely that we
homozygous for specific alleles. There are the true
breeding stock of breeders. However a defect of this is, along with desirable alleles many
other non-desirable alleles also becomes homozygous.
The total effect of such homozygosity is a weaker or less successful or less fit
members of species. Inbreeding thus lowers 2 genes of a locus may be identical for 2
the fitness or adaptive value of species. If reasons-
suddenly called upon to come with a new (a) Identical in state: Two alleles may
circumstances inbred stock would be unable to be both same as may be seen in
do so. homozygotes. Since they are alike
One method in nature, of maintain in function they are called
sufficient genetic variability is ensuring cross identical in state.
breeding. They are stronger or better products (b) Identical by descent.
or higher degree of expression of several trait Case study: Medical Research council UK-
(Heterosis/ hybrid vigour) studies Tristanda cunha Island
The inbreeding can be measured by means of concluded, isolation of population led to
inbreeding coefficient (f). It may be defined as the development of degree of inbreeding
probability that the 2 alleles of any locus in a due to small size & restricted number of
diploid organism are identical by descent. potential mate.
(c)
Consequences of Inbreeding
One of the important aspects of inbreeding is that it

increases the chance of some of the recessive alleles
with deleterious effects to get expressed in the inbred
(the offspring of consanguineous marriages) which get
transmitted from one or more common ancestors
carrying (harbour) the rare recessive alleles.
Theoretically, inbreeding in a population, in general,
increases the number of homozygotes at any
autosomal locus. In case of recessive Mendelian
diseases this can lead to increased risk of genetic
diseases among the inbred children. Consanguineous marriage in India
In the same logic, in case the alleles are not deleterious

in nature, but are advantageous, increase of such genes through inbreeding in a population
is expected to be beneficial. The consequence of inbreeding whether it is deleterious or
advantageous depends on the status of the allele that is involved in the expression among
the inbred and transmission from the common ancestors.
Such cases pose health and survival problems of deleterious or debilitating diseases. This is
health and socio-economic burden to the society and to the country. Increase of deleterious
characters as a result of inbreeding is referred as ‘inbreeding load’.
Inbreeding in a small population lead to decrease in the genetic diversity, and it may lead to
decreased Darwinian fitness of an organism. In case if these results to less capability to
survive in changing environment, or eco-niche, with inbreeding such characters will
eventually allow the species to extinction. Such characters are supposed to have less
Darwanian fitness. Such decline in reproductive performance and fitness with inbreeding in
a population is referred as ‘inbreeding depression’.
Isolation:
In nature most of the population are isolated. Moreover, even that which seems to be a
widely ranging group is isolated into smaller subgroups, either on account of physical
isolation or other factors.
• Isolation prevents inter-breeding between population
• This prevents gene flow between population. (ie exchange/mixing of gene)
• Hence Variation in one population → will lead to No effect on the other
Dobzhansky (1973)→ isolation plays very important role in the evolution of species. Isolation
mechanisms serves as external as well as internal barriers.
ISOLATION MECHANISMS
1. Geographical Isolation
2. Reproductive isolation
a. Prezygotic Isolation
b. Postzygotic Isolation
Geographical Isolation:
• The separation in space of 2 population of species by geographical barrier such as
landmass, water, mountain, desert etc.
• Geographical isolation plays an important role is allopathic

speciation.
• Allopatric species are the related group occupying different
geographical area. They have no chance to meet. This means that
a single common gene pool is, split into 2 gene pools by the
barrier, thus there is no possibility for interbreeding.
• A geographic change separates members of a population into
more than one group. Different gene mutations occur and build
up in the different populations over time. The different variations
of genes may lead to different characteristics between the two populations.

The populations become so different that members of the different populations can
no longer breed with each other anymore if were they to be in the same habitat in the
same time. If this is the case, allopatric speciation has occurred.
Reproductive isolation
Reproductive Isolation mechanism is defined as any genetically
determined agency which prevent interbreeding of Mendelian
population
2 groups
(a) Prezygotic or Premating Isolation:
• External reproductive isolation which prevents inter specific
mating; prevent wastage of gamete.
• It prevents mating itself.
• Ex: Behaviour isolation (interfering in courtship) or
Mechanical isolation (Different Body size- copulation not
possible)
(b) Post zygotic or post mating Isolation.
• Internal reproductive isolation which reduces the formation of viable zygote or
hybrids.
• It allows mating
• But prevent fertilization & further development of zygote.
Prezygotic isolation are highly susceptible for improvement by natural selection, whereas
postzygotic natural selection acts indirectly.
Genetic Load:
Reduction in the observed fitness from that produced by the optimum genotype is know
as Genetic load
• Genetic load is the difference between the fitness of an average genotype in a

population and the fitness of some reference genotype, which may be either the best
present in a population, or may be the theoretically optimal genotype.
• The average individual taken from a population with a low genetic load will generally,
when grown in the same conditions, have more surviving offspring than the average
individual from a population with a high genetic load.
• Genetic load can also be seen as reduced fitness at the population level compared to
what the population would have if all individuals had the reference high-fitness
genotype.
• High genetic load may put a population in danger of extinction.
• If mutation were too frequent, it create sizeable genetic load of deleterious effect.
• Mutation is increasing because of increase levels of ionizing radiation, mutagenic
chemical etc
• Some gene mutate more frequently than others → unstable gene/ mutable genes.
Types of Genetic load that originate & maintain in a population

1. Mutational load:
• Recurrent mutation → Genetic variability of species get reduced.
• Deleterious genes are eliminated in optimally fit population along with some
benificial/advantageous genes leading to genetic burden.
2. Segregation Load:
• It is represented in those situations where the heterozygote’s are more successful
in efficient living than the homozygotes.
• Inferior heterozygote -→ segregated in each generation→ represent the liability in
the population.
• It does not have any immediate & obvious utility value.
• Causes reduction in genetic variability than mutational load.
3. Incompatibility Load:
• Encountered when certain genotypes are unable to survive in environment of
specific parental genotype.
• Ex : Rh +ve Child to an Rh –Ve mother
NOTES
Consanguineous and Non Consanguineous mating

… add points from interbreeding
Marriage between blood relations (person related through common ancestor), Marriage
among closely related individuals are known as Consanguineous Marriage. This process of
mating is known as inbreeding. These can be different degrees of inbreeding depending on
type of marriage.
CM occurs in all societies but their frequency different from society to society. But inbreeding
occurs less frequently because, all societies have some form of incest taboo.
In Human : 2 form:
1. Cousin Marriage:
(a) Cross Cousin Marriage:

• Marriage between cross cousins ie children of siblings of opposite sex, ie
between (i) fathers sisters children. (ii) Mothers brothers children
• Marrying ones mothers brothers children is known as multilateral cross cousin
marriage.
• Japan 10% marriage :cousin marriage.
• Marriage ones fathers sisters child is called patrilateral cross cousin marriage.
• In Bilateral or symmetrical cross cousin marriage there is choice to the
individual to prefer either part lateral or matrilateral cross cousin
(b) Parallel Cousin Marriage.
• Marriage between parallel cousin ie between children of the siblings of same
sex- (i) children of mothers sister (ii) Children of fathers Brother.
2. Uncle-Niece marriage
• An avunculate marriage is any marriage between an uncle/aunt and a
niece/nephew.
• It may refer to a marriage between biological relatives or people related by
marriage.
Factors that prevent
• In some countries, avunculate marriages are inbreeding
prohibited by law, while in others marriages ✓ Endogamy rules
between biological relatives of this kind are both ✓ Incest taboo
legal and common. ✓ Gradual infusion
• In AndraPradesh among certain castes Uncle-Niece of education
marriage makes up 10% of marriage ✓ Modernization
Non Contagious mating ✓ Urbanization.
Mating among unrelated individual. Its is of 2 types.
1. Positive assortative mating:
• Mating among the individuals of like phenotype
• Increase the amount of homozygosity in the population & reduce the
heterozygosity for those phenotypic characters.
• Ex: Stature, IQ, Eye colour.
2. Negative assortative mating
• Mating between individual phenotypically dissimilar.
• Increase amount of heterozygosity in population with corresponding reduction in
homozygosity.
Genetic effects of consanguineous & cousin marriage/inbreeding

Produces 2 effect:
1. Development of pure line-
• Continuous inbreeding – results in appearance of pure line by establishing
homozygosity & eliminating heterozygosity in a population .
• Over a period of time entire population round be composed of distinct pure line
races.
2. Development of Homozygosity under different degree of inbreeding-
• Sewall wright has provided coefficient of inbreeding (F)→ It represents the
proportion by which inbreeding reduces heterozygosity.
• Percentage of homozygosis compared with the original degree of heterozygosis
have been calculated for successive generation under different systems of
inbreeding.
Case study:
✓ A study of new born children
in Hyderabad by Murty &
Jmail found significantly
higher rates of genetic
anomalies in offsprings of CM
as compared in non
consanguineous marriage.
✓ In-depth studies on a few
endogamous caste group in
A.P → inbreeding associated
Figure: Percentage of homozygosity under different systems with higher childhood &
of inbreeding. foetal losses.
• Self fertilization (only plants) Homozygosis rapidly.

✓ After 8 generation- nearly all genes that were heterozygous earlier would theoretically be
homozygous.
• Brother & Sister mating
✓ 95% genes which were heterozygous originally become homozygous in 11th generation
• Double first cousin.
✓ 65% in 14th generation
• Second cousins
✓ 51% in 50th generation
Genetic effect:
1. Stabilize the type or race or group by bringing homozygosity.
2. Recessive genes are brought to homozygous conditions & express themselves in the
offspring’s→ deleterious effect
3. Some of these recessive genes may be deleterious. There defective/harmful recessive
alleles, produce defective phenotypes→ known as inbreeding depression.
4. Reduce variability among offspring’s as a result of loss of heterozygosity.
5. If inbreeding continues in isolated population the genetic differences become larger
between the population & differences within population would reduce.
6. Does not give opportunity to the formation of heterozygotes, because there is no
chance of new genes (or) allele entering the gene pool. (In nature how ever, new
mutation occur & maintain a few heterozygotes in the system)
7. Inbreeding (like out breeding) provide raw material for natural selection. It allows the
natural selection to operate on recessive genes which may be eliminated from the
gene pool of population in due course of time.
Chromosomal Aberrations
In this unit we shall discuss genetic changes at the level of the chromosomes and their effects
in humans. Almost all individuals of a species contain the same number of chromosomes
specific for that species. For example, you and I contain, within each of our cells, a total of 46
chromosomes which is specific for Homo sapiens. However, there are individuals who show
variations from this normal complement. These variations could be changes in number of
chromosomes or structural changes within and among chromosomes – together such
changes are called chromosomal aberrations. The genetic component of an organism
regulates its development and interaction with the environment. Thus, any change in this
genetic component leads to variation in phenotypic characters. Depending on the extent of
the aberration, these effects can range from being lethal to being harmless variations.
Chromosomal aberrations are broadly classified as numerical or structural aberrations:
Numerical Aberrations
• Numerical aberrations are those that cause a change (addition or deletion) in the
number of chromosomes.
• They are further classified as euploidy changes or aneuploidy changes.
• Euploidy is the condition when an organism gains or losses one or more complete set
of chromosomes, thus causing change in the ploidy number. For example, triploid (3n),
tetraploid (4n) etc.
• Aneuploidy is the condition when an organism gains or losses one or more
chromosomes and not the entire set. For example, trisomy (2n + 1), monosomy (2n –
1)
• In humans, euploidy conditions do not exist because the extent of abnormality is too
large to sustain life.
• Aneuploidy conditions, however, are more common and are manifested in disorders
such as Down syndrome, Klinefelter syndrome and Turner syndrome.
We shall discuss these changes in detail later in the unit.
Structural Aberrations
• Structural aberrations are those that involve a change in the chromosome structure.
• These include deletions, duplications and rearrangements (inversions and
translocations).
• Structural changes occur when chromosomes
You should keep in mind that
break and later rejoin in combinations that are
these changes are not mutations
different from the original.
in genes; they only cause the
• When there is a net loss or gain or chromosomal
number and order of genes to be
segments, the change is called an unbalanced
changed.
structural change. When there is no net loss or
gain of chromosomal segments, instead there is
only a rearrangement; it is called a balanced structural change
• Thus, balanced changes usually do not show any abnormal phenotypes, which
unbalanced changes do.
• Structural changes are also seen in humans, and manifest in disorders such as Cri-du-
chat syndrome, Wolf-Hirschhorn syndrome, Prader-Willi syndrome and Angelman
syndrome.
SEX CHROMOSOME ABERRATIONS :
Khenfelters syndrome:
The presence of an additional X chromosome in males
causes abnormal sexual development
• The additional X chromosome results in an increase
in the total number of chromosomes to 47
• Karyotype: 47XXY/47XXYY
• Incidence – 1 in 500 live births
• Cause: Non disjunction during gametogenesis →
produces gamesters with extra sex chromosome. In
75% of cases the 2X chromosome are maternal in
origin.
• Due to this, the gamete contains two X chromosomes rather than one. When such an
egg containing XX is fertilized by sperm containing Y, an XXY zygote is formed that
develops into a Klinefelter male.
• The extra X chromosome may be either of maternal or paternal origin, but it is more
often to be of maternal origin.
• Clinical feature : The imbalance

in the number of sex
chromosomes leads to a series
of abnormalities collectively
known as Klinefelter’s
syndrome
➢ Phenotypically male but
with some tendency
towards femaleness.
➢ The secondary sexual
characters are towards
female such as enlarged
breasts, underdeveloped
body hair, small and soft testes and small prostate glands.
➢ Mental retardation (found when there are more than 2x chromosomes)
➢ Increased breast tissue – gynacomastia
➢ Long limb bones and lanky body
➢ Azoospermia – absence of sperm production leading to infertility
5. Male hypogonadism occurs when there are 2 or more X chromosomes & or more Y
Chromosome. More complex karyotypes can also be associated with Klinefelter- XXYY,
XXXY, XXXYY etc.
Turners syndrome
This syndrome is characterized by the partial or complete absence of one of the X
chromosomes in females. This results in a reduction of the total number of chromosomes to
45. Thus, this syndrome is also called Monosomy X. Its first description as a syndrome was by
Henry Turner in 1938. Thus individuals who lack one X chromosome fail to develop normal
female character.
(1) Karyotype – complete monosomy – 45 X0 or Partial monosomy of X chromosome or
& chromosome
(2) Incidence of turners phenotype is 1 in 2500 live female births. More than 90% abort
spontaneously.
(3) Clinical features: the abnormal female phenotype was described by turner & his
associates as turners syndrome. It includes
(a) Somatic features
➢ Short stature
➢ Low set ears, low hairline posteriorly
➢ Webbed neck
➢ Broad Shield like chest with widely spaced nipples
➢ Growth retardation- Short stature

➢ Constriction of aorta, Ventricular Septal Defect
➢ Primary hypogonadism – poor ovary development
➢ Minimal breast development
➢ Absence of menstrual periods
(b) Variants: comopleter monosomes

(i) 42 X 0 phenotypic female.
➢ no ovaries
➢ Limited sexual characteristics
➢ Senile
➢ Microscopic observation of ovaries: fibrous streaks of tissue representing
remnants of ovaries
➢ X monosomics- probably originate from exceptional eggs or sperm with no
sex chromosomes Or Less of a sex chromosome in mitosis during early
cleavage stages.
(ii) Partial monosomy – Female
➢ Most cases of turners phenotype have normal X and a fragment of X
chromosome.
➢ Those with long arm of the X chromosome are short in stature & other
somatic symptoms of turners syndrome
➢ Those with short arm of second X have normal stature & do not show as
many signs of turner syndrome.
➢ This indicates that the turners phenotype is mostly controlled by gens on
the short arm of the X chromosome
➢ Both arms of 2nd X chromosome are apparently necessary for

normal ovarian development & differentiation.
(iii) Partial monosomy- Male
➢ With one X and a fragment of Y (does not have short arm of Y
chromosome)
➢ Characterized by defective development of testes, sterility and limited
male secondary sexual characteristics
➢ Somatic features of turners syndrome.
Super female/ polysomy X

• Karyo type – 47 XXX or …….
• Trisomy X → Phenotypically they are female
• The level of intelligence and development of the reproductive system vary from
normal to subnormal
• Incidence 1 in 1200 females.
• Other polysomy X cases- under developed secondary sexual characters, sterility,
mental retardation.
Double Y syndrome:
• Karyotype – 47 XYY
• Result of non-disjunction of Y chromatids
• Individuals often show an emotional immaturity & impulsive character. This character
possibly associates them to antisocial behaviour.
• Earlier studies showed high correlation between XYY and prisoners. Hence was
referred to as criminal syndrome.
• Apart from that these individuals have above average height & sub normal
intelligence.
Note: Non-disjunction:
✓ Non-disjunction is the failure of separation of the chromosomes during mitosis or

meiosis.
✓ Normal division involves the separation of the two arms of the chromosomes or
separation of the two chromosomes during the anaphase stage. This ensure that one
copy of each is moved to each pole and consequently each daughter cell receives one
copy.
✓ When this separation fails, both copies will move to one pole. Hence, one of the
daughter cells will now have two copies while the other has no copies of that
chromosome.
✓ Simply put, this is the basis of aneuploidy changes where there is one extra copy
present or one copy missing in the cells.
✓ Advanced maternal age has been well correlated with an increase in the chances of
non-disjunction https://telegram.me/pdf4exams
AUTOSOMAL ABERRATIONS:
Down’s syndrome
• Karyotype – Trisomy 21 / (47+21)
• Down syndrome was one of the first reported
chromosomal abnormalities in humans. It was
described as Mongolian Idiocy by John Langdon
Down in 1866.
• It wasn’t until 1959 that it was shown to be caused
by the presence of an extra chromosome 21, resulting in an
increase of number of chromosomes to 47 (karyotype 47,
XX / XY, +21). Thus, this disorder is also known as trisomy
21 or Down syndrome.
• Incidence: Maternal age more than 40 → special high risk
o Mothers- 25 yrs: 1 in 1500births
o With maternal age 40yr: 1 in 100
o 45 yr: 1 in 40
• Cause → non disjunction in the first 2nd meiotic division. If
non disjunction occurs in germ cells it’s called primary non disjunction. If a trisomic
individual reproduces the non-disjunction resulting in aneuploidy in the germ cells, it’s
called secondary non disjunction.
• Characteristic features.
➢ Certain facial characteristics resembles oriental features. Hence was referred
to as mongoloid idiocy or mongolism.
(a) Simian crease- on the palms of both hands
(b) Dermatoglyphic patterns- tendency for every finger to have a loop rather than
whorls or arches
(c) Short stature (4ft fall)
➢ Facial feature Epicanthic fold
➢ Broad short skulls
➢ Wide nostrils
➢ large tongue with distractive furrowing
(d) Hypotonia – poor muscle tone
(e) stubby hands specially 5th digit
(f) general loose jointedness, specially ankles
(g) low mental ability, fond of music
(h) cardiovascular disorders. Incidence of Downs syndrome
(i) Average life expectancy 16.2 years.
Trisomy- 13, D-trisomy/ Patau syndrome (47, 13+)

(1) Karyotype – 47, 13 +
(2) Incidence 1 in 20,000 new born.
(3) Clinical features
✓ Mentally retarded, small brain & gross brain
malformation, sloping forehead
✓ Harelip, cleft palate, deafness, severely deformed face
✓ Polydactyly
✓ Congenital heart disease, eye defects, kidney defect etc.,
✓ Deaths occur within first 3 months of life, maximum till 5
years.
CRI-DU-CHAT/cat cry syndrome /(46, 5P- )
Most chromosomal deletions are not viable. Autosomal monosomies don’t survive. One
example of partial monosomy is loss of part of the short arm of chromosome 5.
(1) Karyotype: 46, 5P

-
(2) Clinical features.

✓ Extremely low birth weight
✓ Catlike mewing cry from small weak
infant
✓ Microcephaly, broad face, saddle
nose, widely spaced eyes with
epicanthic folds
✓ Abnormal shaped ear and skin tag in
front of ear
✓ Physical & mental retardation (IQ: 20-40)
✓ Die in infancy/ childhood.
Edward syndrome:
(1) Kanyotype: Trisomy 18 (47+18)
(2) Incidence : I in 8000 births (80% are females). Higher incidence in older women
(3) Cause- Primary non disjunction in meiosis
(4) Symptoms:
✓ Visually small head
✓ Small triangular months
✓ Flexed fingers
✓ Prenatal growth deficiency.
✓ Delay in developmental milestones.
✓ Mental retardation & failure to thrive
✓ Prominent occiput, receding jaw, low set
malformed ears.
✓ Rocker bottom feet-flexed big toe and prominent
heels with various deformities of feet.
✓ Congenital heart defects like VSD
Intersexes/hermaphrodites:
An intersex is a sterile individual having the characteristic intermediate between that of male
& female. Intersexes arise when there is a conflict between the 4 criteria of sex, namely:
(1) The chromosomal sex
(2) The sex of the gonad
(3) The physiological sex
(4) The external apparent sex
Did you know? The genitalia form during the 1st three months via a cascade of events. It
depends on → foetal karyotype and sex steroids. Thus any aberration in the cascade, results
in intersex states
Based on Gonadal histology, classified as :

(1) True hermaphrodites
✓ Phenotype ranges from appearance to be almost male to appearance almost
female.
✓ Gonadal tissue – both ovarian & testicular tissue or ovary on one side & testes
on the other
✓ karyotype most have 46XX, but variable
✓ Rarely, in true hermaphrodites the external genitalia is fully masculinized.
(2) Mixed gonadal dysgenesis:

✓ Phenotype – short stature, ambiguous genitalia
✓ gonad- both testicular tissue and primitive gonadal tissue called streaks.
✓ When streaks are bilateral, the disorder, is pure gonadal dysgenesis
✓ Phenotypically females
✓ Karyotype: 46XY /46, XO mosaic karyotype.
(3) Pseudo hermaphrodites has only one type of gonadal tissue.
(a) Female pseudo hermaphrodites
✓ Phenotype- Normal female internal genitalia and ambiguous external
genitalia
✓ Gonads- Ovaries present
✓ Karyotype- 46XX
✓ Cause- due to exposure to excessive amounts of androgens in utero. The
androgens can be
(i) Exogenous- progesterone given to prevent miscarriage
(ii) Endogenous: congenital adrenal hyperplasia—autosomal
recessive disorder → increase ACTH → increase in androgens→
masculinisation of female foetus (adrenal virilism)
(iii) Overactive adrenal cortex of the mother.
(b) Male pseudo hermaphroditism:
✓ Phenotype- external genitalia is ambiguous but this is variable.
✓ A female phenotype is seen in the complete form of testicular feminization
syndrome.
✓ Gonads- Testicular tissue.
✓ Karyotype – 46 XY.
✓ Cause
(1) Inadequate production of androgen- Gonadal dysgenesis in embryo,
Gonadotropins abnormality or Error in synthesis of testosterone
(2) Inadequate response to androgen- androgen target cell abnormality
called as testicular feminization or androgen insensitivity syndrome → X
linked disorder.
GENETIC IMPRINTING (Genomic/parental imprinting)
The expression of a small number of human genes is

Gene from male and female for
influenced by whether the gene has been inherited
same character will express same
from the mother or father. This process -
behaviour. This is known as
called Genetic / genomic (or parental) imprinting -
theory of equivalence.
usually means that the organism expresses one of its
Theory of Equivalence: There is
alleles but not both. In many cases the non-expressed
no difference in the phenotype of
allele is inactivated - for example, by DNA
the trait even in case of reciprocal
methylation. (High levels of DNA methylation are
cross.
known to inhibit gene activity.)
Reciprocal cross- exchange of the
✓ Genetic Imprinting is the differential sex of parents carrying different
inheritance of genetic material from the genotypes
mother versus the father. An exception to theory of
✓ For example Huntington’s chorea, an automat equivalence is genetic imprinting
dominant diseases, varies in severity in relation / genome imprinting
to the source of the gene of the disease. The
symptoms are the same. But it is observed that, in case of paternal origin, the time of
initiation and severity of the disease vary when compared to material origin.
✓ This proves that though genes have similar structure and function they are
differentially stamped or imprinted according to the source of origin.
✓ Similarly male sex chromosomes have a different
phenotypic effect compared to the female sex
chromosomes.
✓ There are a number of genes which are imprinted
or stamped sex markers, which is male or female,
thought they are responsible for a same trait.
Mechanism of imprinting:
one of the theories is, selective methylation of DNA

(adding a methyl group to cytosine by DNA methylase).
It has been discovered that genes from mother are
usually more methylated than the ones coming from the
father. This degree of methylation brings about qualitative & quantitative changes ie
Excessive methylation results in inhibiting the activity of gene & is responsible for a number
of disorders.
Characteristics:
(1) Imprinted genes express variously→ male & female genes have different magnitude
of expression & time of expression
(2) Genetic imprints are erasable. Imprinting is done in gonadal tissue. Such markings are
erased during gametogenesis and he/she stamps or marks his own sex.
(3) Gene imprinting is not a rule. Only some genes, are imprinted. Majority are
unimprinted
(4) Genetic imprinting is species specific → genes imprinted in one species are not
imprinted in other species.
Uses:
The differences between maternal & paternal genes are significant in studying differential
inheritance. It helps us know the effect of deletions in different sexes & variations of diseases
according to different sexes eg- Myotonic dystrophy.
Other diseases:
✓ If there is a chromosomal deletion in a region Myotonic dystrophy is a long
concerned with placental development, it may have term genetic disorder that
no effect if inherited maternally. But causes failure affects muscle function.
of placental developed if inherited paternally Symptoms include gradually
✓ Deletion – 15q 11-13. worsening muscle loss and
If Derived paternally – called praderWilli syndrome. weakness. Muscles often
Characterized by developmental delay, obesity & contract and are unable to
hypogonadism. relax. Other symptoms may
Derived maternally – called Angelman syndrome. include cataracts, intellectual
Characterized by mental retardation, large month, disability and heart conduction
protruding tongue & seizures problems.
GENETIC SCREENING:
Genetic screening is a use of specific assays to determine the genetic status of a target
populations, those which are at risk for a particular genetic disorder.
Genetic screening is systematic search of populations for persons with latent, early or
asymptomatic disease.
Screening forms part of a continuum of Genetic screening refers to screening
approaches for improving population health, for genetic diseases; it is a systematic
ranging from health promotion and disease program offered to a specified
prevention to treatment and rehabilitation. population of asymptomatic individuals
Screening is known in public health terms as a whereby a variety of test methods can
secondary prevention strategy, which identifies be used to make a risk estimate
disease before symptoms develop, as early regarding an inherited predisposition to
intervention might lead to improved health disease, to detect an inherited disease
outcomes. at an early stage, or to make a risk
Genetic screening tests can involve molecular, estimate regarding the possibility of
biochemical, and other types of analyses, or transmitting a disease to offspring, for
even the use of family history questionnaires, to the purpose of disease prevention, early
predict which individuals are at risk of treatment, or family planning.
developing or transmitting (or both) a genetic
condition. Some tests are strong predictors of disease occurrence, but many have a high
degree of uncertainty.
Genetic screening is appropriate when

(1) The screening tests are valid & reliable
(2) Acceptable rates of sensitivity, specificity, false negative & false positive
(3) Effective therapy is available
(4) Sufficient benefit must be derived from the program to justify the cost.
Types:
1. Heterozygote screening- certain populations are susceptible to certain disorders and
there is high frequency of heterozygotes in them. By screening we determine the
carriers for a disorder and help the couple to make informed reproductive choices.
Eg:- Tay Sachs in Ashkenazic jews, Sickle Cell Anaemia in blacks, thalassemia in various
ethnic groups.
2. Pre-symptomatic genetic screening: appropriate for persons with a family history of
a dominantly inherited disorder. Identifying a definite carrier may allow patient to
make informed decisions Eg:- monitoring in case of breast cancer.

Reproductive choices in case of huntingtons disease
Problems
or adult polycystic kidney disease.
(1) Mistaken paternity
3. Prenatal diagnosis:
(2) Problem of confidentiality
Indications:
(3) Delayed counselling
✓ Maternal age more than 35
(4) Engines’ probs.
✓ Family history of a disorder
✓ Abnormal maternal serum screening results
✓ Complications of pregnancy
Methods – amniocentesis, chronic villus sampling, cord blood, maternal blood
sampling, Ultrasound & X-ray.
4. New born screening- to detect certain common disorders so as to initiate treatment
early, eg:- phenylketonuria – special diet, galactosaemic → special diet;
Hypothyroidism- replacement therapy.
Case study:
✓ In India, new-born screening programmes for sickle cell disorders among tribal and
non-tribal populations have recently been initiated in south Gujarat, Maharashtra,
Chhattisgarh, Odisha and Madhya Pradesh.
✓ A cross-section of 15 major tribal communities from different parts of Odisha was
randomly screened for haemoglobin variants and G6PD deficiency and high
frequencies of sickle cell haemoglobinopathy (0-22.4%) and G6PD deficiency (4.3 to
17.4%) were found.
✓ Among the 14 primitive tribal populations from four different States showing a high
frequency of sickle gene, the prevalence of G6PD deficiency varied from 0.7 to 15.6
per cent.
✓ The Indian Council of Medical Research and the National Rural Health Mission in
different States are undertaking outreach programmes for better management and
control of genetic disease.
✓ The tribal groups with a high prevalence of HbS (20-35 %) include the Bhils, Madias,
Pawaras, Pardhans and Otkars.
✓ The entire tribal population of 1,25,000 individuals in the Wayanad district of Kerala
was screened, followed by genetic counselling where carriers of HbS were advised
not to marry carriers
GENETIC COUNSELLING:
It is defined as a process in which those patients or relatives who are at the risk of a genetic
disorder are informed about the risk, its consequences, its transmission and ways by which
the disorder can be prevented or mitigated.
A communication process dealing with human problems related to the occurrence or risk of
genetic disorder in the family
Goal: to provide accurate information so as to enable to make an informed choice.
Steps:
(1) accurate diagnosis
(2) determine risk of recurrence/mode of inheritance
(3) transmission of information
(4) management of the disorder either curative or supportive.
Diagnosis :
✓ History of the individual- present & paste history
➢ Obstetric history→ exposure to teratogens
➢ History of abortions, still births
➢ History consanguinity (imp in autosomal recessive disorder )
➢ Family History or pedigree analysis
✓ Physical Examine
✓ laboratory investigation
✓ Biochemical testing- maternal blood, cord blood,
✓ chromosomal analysis→ amniocentesis, karyotyping, chorionic villous sampling
✓ Molecular studies
✓ Imaging - MRI (Mammogram -for breast ca)
Determine mode of inheritance

✓ By using pedigree chart → mode of inheritance can be found
✓ By using mendelian principles- probability of transmission can be ascertained.
Transmission of information
Following factors to be considered
✓ Psychology of the patient
✓ Emotional stress under prevailing conditions
✓ Attitude of family members towards the patient
✓ Education, social & financial background
✓ Ethical, moral & legal implications
Management of the disease:

Counsellors helps make reproductive choices or if patient is suffering from symptoms the
disorder should be managed .
(i) Prenatal treatment
➢ Termination
➢ Steroid treatment – dexamethasone in adrenal hyperplasia
➢ Transfusion of stem cells – in immune deficiencies
➢ Utero gene therapy /embryo therapy may become possible in future
(ii) Post-natal treatment:
➢ Replacement of gene product: eg:- recombinant factor VIII (in Haemophilia),
insulin, Growth hormone, thyroxine.
➢ Treatment with drugs: eg: wilson’s disease → pencillamine
➢ Tissue removal & transplantation: eg: hereditary spherocytosis → splenectomy;
polycystic kidney.
➢ Dietary restriction: eg:- Phenyl Ketonuria, Galactosemia, hypercholestrolemia,
lactose deficiency, Folic acid supplementation etc
➢ Gene therapy
➢ Stem cell transplantation.
Case study:.
❖ In western coast of India genetic disorders are found among the fishing community,
probably due to radiation from the sand or due to release of radioactive
radiation/waste from the nuclear plant. For this reason the department of
BioTechnology had started a special drive of genetic counselling
❖ Study in Japan between 1995-2005 → increase abnormalities from 2% to 3% due to
nuclear bomb → regular screening and counselling done
❖ Study among Taivalol moiety in the Todas indicate increase mental retardation from
3% to 6% → need to be addressed by genetic counselling
❖ Tribal welfare ministry → study undertaken to study the occurrence of down’s
syndrome in Sugali’s in Maharashtra & M.P. Similar studies are proposed for tribes
with a culture of marrying within the phratry & moiety.
GENE MAPPING:
Gene mapping refers to the mapping of genes to specific location on the chromosome. It is a
critical step in understanding of genetic disorder.
There are 2 types of Gene mapping-
➢ GENETIC MAPPING : using linkage analysis to determine the relative position between
2 genes on a chromosome.
➢ PHYSICAL MAPPING: using all available techniques or information to determine the
absolute position of gene on a chromosome.
The ultimate goal of gene mapping is to clone gene especially disease genes. Once a gene is
cloned we can determine its DNA sequence & study its protein production.
Ex: red cell acid phosphatase assigned to chromosome 2
(1) Linkage is a method that allows us to determine regions of chromosome that are likely
to contain a risk gene and rule out areas where there is low chance of finding risk gene.
Linkage works by using markers, which are well characterized region of DNA. Many
markers have been identified by human genome project & other program to map
chromosome region.
When we find a marker that is found with the precedence of a condition the marker
& disease causing gene are said to be linked. To apply this basic principle to map a
disease gene, we need to analyse the pedigree & estimate recombination frequency.
(2) Physical mapping technique may include somatic cell hybridization and florescent-in-
situ hybridization (FISH) and southern blotting tech.
Other method: pedigree analysis → study of segregation of marker genes in families with a
particular hereditary disorder. It has helped to demonstrate a linkage in chromosome 9
between the gene loci of ABO blood group and rare disorder Nail-patella syndrome
Use:
Identification of genes is usually the first step in understanding a genome of a species;
mapping of the gene is usually the first step of identification of the gene. Gene mapping is
usually the starting point of many important downstream studies.
Disease association →The process to identify a genetic element that is responsible for a
disease is also referred to as "mapping".
Genetic finger printing / Human DNA Profiling

DNA typing, genotyping, or identity testing
DNA fingerprinting is a method used to identify an individual from a sample of DNA by

looking at unique patterns in their DNA.
Discovered by Alec Jaffreys, it’s a unique genetic technique by which any individual can be
differentiated from others except identical twins. The fingerprints are nothing but a bands
of DNA of varying molecular weights that vary from individual to individual
Characteristics of FP
(1) No two persons have same Finger Print except identical twins
(2) DNA of an individual give the same pattern throughout from birth to death
(3) Number of FPs (bands) depend on the type of restriction enzyme, probe or both.
Background The principle:

Almost every cell in our body contains our Chemical structure of every ones DNA is the
DNA. On average, about 99.9 per cent of the same. The only difference between people
DNA between two humans is the same. The is the order of base pairs. There are so many
remaining percentage is what makes us millions of base pairs in each person’s DNA
unique (unless you are an identical twin!). that every person has a different sequence
Although this might sound like a small Using there sequence, every person could
amount, it means that there are around be identified solely by sequence of their
three million base pairs? that are different base pair. However because there are so
between two people. These differences can many millions of base pairs, task would be
be compared and used to help distinguish time consuming, instead scientists use a
you from someone else. Minisatellites are shorter method, because of repeating
short sequences (10-60 base pairs long) of patterns in the DNA.
repetitive DNA that show greater variation
from one person to the next than other parts of the genome. This variation is exhibited in the
number of repeated units or ‘stutters’ in the minisatellite sequence. The first minisatellite
was discovered in 1980. In DNA fingerprinting we detect variations in human DNA, in the
form of these minisatellites. DNA fingerprinting is a technique that simultaneously detects
lots of minisatellites in the genome to produce a pattern unique to an individual. This is a
DNA fingerprint. The probability of having two people with the same DNA fingerprint that are
not identical twins is very small. Just like your actual fingerprint, your DNA fingerprint is
something you are born with, it is unique to you.
Genetic basis of DNA FP

There are 3 types of DNA
(1) Unique sequence → code for proteins
(2) Satellite DNA → About 10-15% comprises short tandem repeat DNA sequence.
(3) Interspersed repetitive DNA Sequences (consists of 2 classes)
✓ Short interspersed repetitive elements (SINE)
✓ Long interspersed repetitive elements (LINE)
These have been implicated in mutations
These repetitive sequences are repeated between a few to thousand times depending
on which they are called VNTR (Variable number tandem repeats) and HVR (Hyper
variable repeats) (depending on number and length variability in population)
DNA probes have been isolated, which detect families of these HVRs located at difference
chromosomal loci. By producing number of hybridization signals, we can produce number of
Finger Prints. The probability of 2 unrelated individuals having identical length of DNA
fragments at a particular HVR is very low.
Probes to detect 30-40 difference HVRs can be used simultaneously, thus specificity is very
high.
Materials needed for DNA FP

(1) Restriction endo nucleases: selected on the basis of sequences of the probe and
organism whose DNA is to be analyzed.
(2) Probes
The process of DNA fingerprinting

(1) The first step of DNA fingerprinting was to extract DNA from a sample of human
material, usually blood.
(2) Molecular ‘scissors’, called restriction enzymes, were used to cut the DNA. This
resulted in thousands of pieces of DNA with a variety of different lengths.
(3) These pieces of DNA were then separated according to size by a process called gel
electrophoresis
(4) Once the DNA had been sorted, the pieces of DNA were transferred or ‘blotted’ out of
the fragile gel on to a robust piece of nylon membrane and then ‘unzipped’ to produce
single strands of DNA.
(5) Next the nylon membrane was incubated with radioactive probes
(6) The minisatellites that the probes have attached to were then visualised by exposing
the nylon membrane to X-ray film. When exposed to radioactivity a pattern of more
than 30 dark bands appeared on the film where the labelled DNA was. This pattern
was the DNA fingerprint. To compare two or more different DNA fingerprints
the different DNA samples were run side-by-side on the same electrophoresis gel.
Applications of DNA fingerprinting:

(1) Medico legal cases
- Paternity & maternity
- Criminal identification &
forensics
- Identification of person
(2) Pedigree analysis
(3) Taxonomical application
(4) Anthropological studies- to chart
origin & migration of human population
Problems with Genetic FP:

(1) Generating a high probability is necessary to identify the person, especially in criminal
cases
(2) VNTRs are not distributed evenly across human population. So probability of that
VNTR occurring can’t be easily determined. Further experiments aimed at finding out
probability of specific VNTRs in ethnic groups is not encouraged as it comes close to
eugenics.
(3) Errors in hybridization, probing & amplifying DNA can cause problems specially in
medicolegal cases.
HUMAN GENOME PROJECT (HGP)
It is a coordinated international effort to

HGP was a multinational collaborative
determine the sequence of the haploid human
project aimed at identifying all the genes
genome of 23 chromosome & identify all the
in the human DNA and determining the
genes it contains.
sequence of about 3 billion nucleotide
First draft was released in 2001 followed by the
pairs that constitute the human DNA to
complete draft in 2003. Some of the main
understand the species’ genetic makeup.
findings from the draft sequence are as
Goals of HGP:
follows:
(1) Map the entire genome
• Total number of genes was estimated at
(2) Determine the sequence of the 3
30, 000.
million basepairs that make up
• The average gene was found to consist
human genome
of 3000 basepairs but sizes vary greatly.
(3) Identify all the genes in human DNA
• Repeated sequences that do not code
(4) Store the information in database
for proteins (“junk DNA”) make up at
(5) Develop tools for date analysis
least 50% of the human genome.
(6) Address the ethical, legal and social
issues (ELSI) resulting from the
project
• About 1.4 million locations with

Human Genome Diversity Project (HGDP):
SNPs were identified.
HGDP was formally organised in 1993 under
- Genes are not uniformly
Stanford University’s Morrison Institute, and
distributed on chromosomes
was aimed at understanding the diversity
In a chromosome there gene
patterns worldwide, the contributing factors
rich clusters separated by
and the implications of the observed diversity
gene poor deserts ( G bands)
patterns. Findings from the project could also
- 19th chromosome -highest
shed light on the origins and migration
gene density
patterns of the entire human species. HGDP
- Chromosome 13 & Y →
could also aid in understanding the role played
lowest.
by environmental factors in complex human
• Largest known gene codes for
diseases.
dystrophin, a muscle protein.
HapMap Project: The International HapMap
• Junk DAN
Consortium is an international collaborative
- Has repeating DNA
venture between Japan, the United Kingdom,
- Can be used as dating tools
Canada, China, Nigeria, and the United States
- Based on DNA dating, can build
aimed at developing haplotype map of the
family trees of repeats, showing
human genome in a bid to identify genetic
where they came from & when
determinants of complex diseases. The
during evolutionary process.
information made available through the
• 99.9% of DNA is alike in all human
HapMap project is helping researchers find
races → no superior/inferior race.
genes that affect health, disease, and
• Also scientists carried out parallel
individual responses to medications and
studies of several non-human
environmental factors.
organisms like yeast, mouse etc.
Indian Genome Variation (IGV): IGV was the
Benefit: first large scale effort to document and
Findings from HGP are already having understand the genomic structure of
profound impact on diverse areas of enormously varied Indian populations. The
research including molecular medicine study found high degree of genetic
(improved diagnosis of disease, earlier differentiation among the different ethnic
detection of genetic predispositions to groups.
disease, rational drug design etc.),
bioarchaeology, anthropology, evolution and human migration, DNA forensics
(identification), agriculture, livestock breeding etc. Its application includes-
(1) Greater insight into aetiology of diseases
(2) Earlier detection, prevention and treatment by gene therapy of various genetic
disorders.
(3) Cancer aetiology & role of genes to treat of cancer

(4) CODIS combined DNA index system- helps analysis of human genome from a small
sample of DNA in forensics
(5) Comparative DNA sequence analysis
- Trace migrations & origins of populations
- Relation between population
(6) Bacterial genome- energy population, remediation etc
(7) GM crops and animals
(8) Biopesticides
(9) Studying other organization will help ascertain function of unknown genes, insights
into evolution and between 3 kingdoms .
Criticism:
(1) It was viewed as waste of time, money & human resources on a monotonous
technology driven exercise.
(2) Would divert funds from already sparsely funded small individual science projects
(3) Complete sequence is unnecessary & tedious
(4) Most part may be just evolutionary baggage without function
(5) ELSI- Ethical Legal Social Issue
- Access to genetic info is an issue: If handled carelessly could cause discrimination
by potential employees & even government
- Privacy & confidentiality of information
- Risk of anxiety & unwelcome stigmatization
- Patenting of products of HGP
RACE AND RACISM
Race can be defined in a variety of ways depending on the context.

In terms of reproductive isolation → Race is a group of population isolated to an extent that
exchange of genes is absent or so slow that the difference is maintained
This definition implies four feature of a race.
(1) Group of population
(2) Genetic differences → the group of population forming a race have some genes in very
high frequency & some low. Such differences occur due to chance & natural selection
(3) Reproductively isolated → which maintains the genetic differences. But when they
come in contact with other races, they set up new gene frequency.
(4) Race is a biological concept It occurs only due to genetic differences, not due to any
cultural superiority.
Other definition:
Hooton (1926) defined race as a great division of mankind, the members of which, though
individually varying, are characterised as a group with a certain combination of morphological
and metrical features, primarily non-adaptive, which have been derived from their common
decent.
Montagu (1942) defined race or an ethnic group as representing number of populations
under species Homo sapiens, which individually maintain their differences, physical and
cultural, by means of isolating mechanisms such as geographic and social barriers.
As early as 1944, Dobzhansky provided a genetic definition of human race. According to him
“Races are defined as populations differing in the incidence of certain genes, capable of
exchanging genes across boundaries that separate them”. Later he gave a somewhat
different definition i.e. “Races are genetically distinct Mendelian populations. They are
neither individuals nor particular genotypes who differ genetically among themselves”
(Dobzhansky, 1970). In his opinion the traditional morphological races of the anthropologists
were interference of genetic races.
Boyd (1950) defined human race as a population which differs significantly from other
human populations with regard to the frequency of one or more genes it possesses.
According to Garn (1960) “Race is a breeding population, partially isolated reproductively
from other breeding populations, arising commonly but not exclusively from geographic
isolation.”
Hulse (1963) stated “Races are populations which can be readily distinguished from one
another on genetic grounds alone”.
In his famous book Origins of Man, Buettner-Janusch (1969) defined race as “Mendelian
population separated from another by major geographical barriers; breeding isolate; a
population distinguished from another by demonstration of differences in allele
frequencies.”
According to Mayr (1969) race is “An aggregate of phenotypically similar populations

of a species, inhabiting a geographic subdivision and differing taxonomically from other
populations.”
Templeton (1998) stated “A subspecies (race) is a distinct evolutionary lineage within a
species that genetically differentiated due to barriers from genetic exchange that have
persisted for long periods i.e. the subspecies must have historical continuity in addition to
current genetic differentiation.”
Race as a biological concept:

A race may be defined strictly in biological terms as a population of a species that different
in the frequency of some gene or genes, from other population of the same species. Three
important things have to be noted
(1) It is arbitrary- there’s no agreement as to how many genetic differences make a race.
(2) The definition implies that any one race is not in exclusive possession of any particular
gene or genes. Hence no pure race is possible.
(3) Individuals of one race will not necessarily be distinguishable from those of another
As a device for understanding variation, biological concept of race has serious drawbacks
because:
◼ It is arbitrary
◼ Increase Contact between population has reduced the difference
◼ Phenotypic traits can’t be deciphered genetically
◼ Race exists as cultural category.
Thus anthropologists have been convinced race concept is of no particular utility. Instead
they study the distribution & significance of specific genetically based characteristic or small
breeding population.
Racism: Race as a cultural concept:

Racism is a set of beliefs, ideology and social problem
that advocates the superiority of certain races over others.
It is rooted in the belief that all members of a race possess
characteristics, ability & qualities which are specific to that
race, so as to distinguish it as superior or inferior to another
race. Further they view cultural differences between people
as the result of genetically inherited traits & tendencies. It is
culturally rooted, as recognizing another’s race is what we
learn when we grow up in a particular culture.
It leads to prejudice & discrimination against particular populations. Hence race used
as a cultural concept gives rise to cultural bias and discrimination. Hence physical
anthropologists are gradually abandoning the use of racial categories in studying

human variation, as race can get ambiguous meanings when used as cultural term. culturally
defined categories are not objective and cannot be translated into clear biological categories.
In many societies, racist beliefs was need for political suppression of minority groups.
Eg: Nazi racists ideology. However in anthropological terms Jewish race is not recognized.
One cannot easily distinguish physical characters of the Jews from those of Nazis. The Jews
form only a cultural group & a racially heterogenous group.
Anthropologists like R.C. lewontin adopted a multivariate approach in examining the

distribution of certain physical traits including skin colour & hair texture. Comparing the
distribution of these traits to common divisions of race, he noted that traits used to identify
races do not accurately reflect human variation. Only 6% variation totally is among
difference races whereas 94% variation of physical traits is found within each race. Thus it
unnecessary to follow raciation as human groups.
MODERN THOUGHT ON RACES – THE ETHNIC GROUPS
In the first half of the 20th century while racial classifications continued to be
generated, a few anthropologists such as Ashley Montagu and biologists such as Julian
Huxley opined that it was difficult to use zoological nomenclature for classifying humans into
groups. They argued that the classification
Livingstone (1962) in his article “On the
of humans into races was simply not a
non-existence of human races” pointed out
productive endeavour to examine human
that the static typological notion of races
variation. Huxley (1865), Deniker (1900),
was simply not compatible with the
and Huxley and Huddon (1936), Montagu
dynamic concept of natural selection. He
(1942) adopted the term “ethnic group” as
did not deny the differences among
a replacement for “race”, maintaining that
populations but argued that these
the latter term had lost its usefulness for
differences did not match races. As an
describing human variability.
alternative to this static approach, he
Subsequently, on July 18, 1950, suggested that research should focus on
following World War II, UNESCO issued a geographical variation of single traits, or
statement which included both a scientific what was called “clinal variation.” In other
opposition to race theories and a moral words, “there are no races, there were only
condemnation of racism and thus clines”. (A cline is a geographical transition
suggested to replace the term ‘race’ as from higher to lower incidence of a
‘ethnic group’. biological trait ). If the goal of
anthropological research was to explain the
Montagu (1942) noted that there were no genetic variation among populations, then
clear boundaries in the continuous stream the racial approach was simply not
of human variation and argued that adequate.
anthropologists should consider Darwinian UNESCO made a declaration regarding the

natural selection to understand the
concept of race.
relationships among human groups and
develop a dynamic “genetical theory of race” 1. All human beings belong to one
using concepts such as exogamy, endogamy, species- Homo Sapiens sapiens
hybridization, mutation, selection, isolation 2. Differences exist because of heredity or
and random genetic drift. He stated that race environment
is merely an expression of the process of 3. Change in heredity is because of
genetic change within a definite ecologic area
mutation or cross marriage
with the goal to discover what factors produce
4. Race can’t be grouped on basis of
the variation and change gene frequencies.
nationality, religion, geography,
Thus, races could be viewed as episodes in the cultural or linguistic factor
evolutionary process (Hulse, 1962) and were 5. Present day classification is based on
not static, fixed entities but dynamic units that anatomical difference & not on
constantly changed. One could also study the
superiority
relationship between cultural and biological
6. Intelligence has no role
diversity and this, as Thieme (1952) states, is
the anthropological perspective of combining 7. Cultural differences have no role
cultural and physical anthropology. 8. Pure races don’t exist
9. All humans are equal & deserve equal
Criteria used for determining race treatment.
Although it is not easy to divide the world
population into clear-cut categories such as
races as the dividing lines between them are arbitrary, many anthropologists now consider
race to be more a social or mental construct than an objective biological fact. Nonetheless,
the European scientists and physical anthropologists of the 17th and 18th centuries
proposed various systems of racial classifications based on observable traits such as skin
colour, hair colour/type, body proportions, and skull measurements, essentially codifying
the perceived differences among broad geographic populations of humans.
The traditional terms for these populations – the Caucasoid, Mongoloid and Negroid - are
now controversial in both technical and non-technical usage. Presently, the biological aspect
of race is described not by observing physical features but rather from characteristics such
as blood groups and other genetic polymorphisms.
Robert Boyd (1948 - ) suggested a few conditions which should be satisfied by criteria chosen
for racial classification. The important requirements are as follows:
(i) A criterion must be objective, so that different investigators do not show individual
variation in identifying and classifying the concerned traits.
(ii) A criterion should be non-adaptive, so that natural selection cannot play effective role.
(iii) A criterion should not be modified to a large extent by environmental factor.
(iv) A criterion should not be subject to a high rate of mutation.
(v) A criterion should be controlled by a known genetic mechanism (like follow mendelian
pattern.)
Types of chosen criteria

(1) Morphological or Phenotypic
✓ Morphoscopic / anthroscopic
✓ Morphometric /anthropometric
(2) Physiological
✓ Serological & genetic
MORPHOLOGICAL CRITERIA
MORPHOSCOPIC CRITERIA:
In the sense that the parameters can be discriminated on the basis of vision.
Skin colour: is usually considered as most important indicator of racial distinction. The
population of the world classified into 3 groups
(a) Leuco derms- white skinned eg: Caucasoid

(b) Xantho derms- yellow skinned eg: mongoloids
(c) Melano derms- dark skinned eg: Negroid
However, there are peoples who have different shades of skin colour that varied from the
above three major categories of skin colour. To solve this, Luschan Felix von Luschan (1854-
1924) and Eugen Fischer (5 July 1874 – 9 July 1967), Fischer proposed different categories of
skin colour to classify individuals into major racial categories and its sub-types. (Table:
Luschan and Fischer’s skin colour classification)
But anthropologists note that it’s not a good indicator of race. WHY?
- Unrelated people have high similarity
- Affected by environment
- Skin colour depends on the deposition of melanin → which has adaptive effect in
relation to the climate they live in.
The yellow skin colour and its variants are associated with Skin colour Categories
the Mongoloid people, while the White skin colour and its
Yellow Yellow White
different shades are prevalent among the Caucasoids.
Different shades of brown colour are found among other Carmine White
Asian groups who are sub-types of Caucasoids and the
American Indians who are variants of Mongoloids. The black Yellowish
skin colour is associated with the Negroids who are White Fawn White
frequently present in Africa and parts of America besides
some other Asia Pacific islands. Carmine White
Hair: an important & oldest criteria used. The various Pinkish White
characters used are
Brown Light Brown
(a) Form-
Medium Brown
a. leiotrichous /straight hair
b. cymotrichous /wavy hair Dark Brown
c. ulotrichous / woolly hair
Reddish Brown
➢ Climate influences form → woolly hair is
found in moist & warm climate; straight hair Black Greyish Brown
in dry & cold climate
(b) colour- no environment effect on colour of hair Black
(b) Hair texture
(c) Quantity
(d) Cross section
(e) Hair whorl
In general, Mongoloid races have leiotrichous form of hair, cymotrichous among the
Caucasoids whereas Negroes possess ulotrichous hair. The colour of hair shows a wide
range of variation, especially in Europe and parts of Northern Asia. Among the
Mediterraneans, hair is of darker colour, while in Northern Europe it is lighter ranging from
light brown to reddish colour. Dark hair is common everywhere. Texture of hair may be
coarse, medium or fine. The Chinese and the Japanese posses coarse hair while Caucasoid
show medium hair.
MORPHOMETRIC (MEASURABLE) CRITERIA:

Stature: Height categories Range in cm.
• Stature is an important criterion for Pygmy up to 129.9

understanding the classification of racial
Very short 130-149.9
groups.
• It is employed to characterise various racial Short 150-159.9
groups. Stature shows a considerable range of
Lower Medium 160.0-163.9
variation within certain limits among the same
group of people, for example, a group Medium medium 164.0-166.9
characterized by short stature, may include
some tall stature, may include some tall Upper medium 167.0-169.9
statured persons also, and vice versa.
Tall 170.0-179.0
• The scale used by Martin’s classification is
commonly used. Refer Table: Categories of Very tall 180.0-199.0
stature (according to Martin, 1927)
Giants 200.0 onwards
Tall stature is characteristic of Sikhs and Rajputs of
India and also of the North Western Europeans. It is also found in other parts of Europe and
among the Northern Chinese. Nilotic Negroes are also tall people. Mediterraneans, Alpines,
Armenoids, Dravidians are some of the medium-
statured peoples. Melanesians are short in stature; Allen’s Rule: body form or shape is
though the shortest group of mankind i.e. pygmies linear in warm climates and more
are represented by Andamanese and Negrilloes. rounded and compact in cold climates.
Round forms have a smaller surface
• However, it requires careful consideration area to volume ratios.
because environmental conditions have an
important effect on stature. Under varied Bergmann’s Rule: body size is large in
environmental conditions different results cold climates and small in warm
may produced. scientists suggest the body climates. Large bodies have a smaller
built of many mammals vary according to the surface area to volume ratios.
temperature of the environment eg: Both of these rules cause systematic
Bergmann & Allen rule. But it is not clear changes in the surface area to volume
whether its solely due to natural selection. ratios. In cold climates where you need
Many other conditions affect the statue: to retain heat, so bodies are larger and
- Physical & physiological stress more compact. In warm climates
- Medical care where you need to expel heat, so
- Hybrid vigour etc bodies are smaller and more linear.
- Nutrition
- Internal secretions of important glands like pituitary, thymus

and gonads.
Thus, it is generally believed that stature is dependent upon an association of paratypical

(environmental) and diotypical (hereditary) factor. This does not mean that all the tall races
or the pygmy races are genetically related to one another. They may not have any
genealogical relationship.
Head form:
• Three indices- Cephalic index, length-height index

& Breadth- height index.
• Eg: Broca’s index uses cephalic index: breath /
length X100. There is debate regarding use of
cephalic index for purpose of race classification,
especially since head form, to some extent is
determined by birth. It’s of secondary importance.
• It is known that, Caucasoids have dolichocephalic
to brachycephalic head form while negroids showed predominantly of dolichocephalic
head form. Brachycephalic head form is quite common among the Mongoloids.
Face form:
• Different shapes- round, oral etc (morphoscophic)

• Facial index- Facial length bizygomatic breadth X 100
• There is a harmonic relation between face & the head. A long face is generally
associated with long head, while a brachycephal has a broad face. Exception is
present & called disharmony eg:- Eskimos- long head & Bread face.
• Affected by environment: temp- cold climates → high narrow noses than tropics
→ help in humidifying & warming effect.
During the 19th century, the scientists were measuring human bodies and focusing on
cranial morphology. Retzius (1842) popularized a measurement called the cranial index (C.I.)
The values obtained were grouped under following categories.
a) Dolichocephalic (Long and narrow heads) – C.I. 74.9 or less
b) Mesocephalic (Medium heads) – C.I. 75-79.9
c) Brachycephalic (Short, broad, or round heads) – C.I. 80 or more
Jaw profile :
• Prognathism – lower jaw is protruded outwards & downwards as in Negroids

• Orthognathism- when the face does not show any trace of protrusion.
• When the alveolar regions project forward it’s called alveolar prognathism.
• The modern people are characterized by orthognathism.
Nose forms
(a) Nasal index : nasal breadth / Nasal length X 100

- Leptorrhine- Caucasoid
- Mesorrhine- mongoloid
- Platyrrhine- Negrod
(b) Nasal root- low, medium, deep
(c) Nasal bridge
(d) Nasal profile – depends on root & bridge straight,
concavoconvex, concave, convex.
• Narrow & broad nasal bridges→ Primitive humans

• Depressed root with broad bridge → Negroes
• Highest bridge→ Caucasoid.
Eye
• Hooton has distinguished only two sharply contrasted varieties of eyes in modern
man they are – the Mongoloid eye and the non-Mongoloid eye.
• In typical Mongoloid eye - the outer angle is higher than the inner angle, the slit
(eye opening) is narrow and more interestingly the inner epicanthus (epicanthic)
fold is present in varying degrees.
• As the name implies ‘the Mongoloid eye’ is found among the Mongoloid people
and people having Mongoloid admixture.
• The typical non-Mongoloid eye is wide open and straight. The eye fold is not
observed. This is found to occur in the members of the Caucasoid group.
Dermatoglyphics
• Dermatoglyphics (derma – skin; glyphics - carve) means the study of the ridge
patterns of the skin of the finger, palms, toes and soles.
• Galton has classified the various finger patterns into three types they are arches
(A), loops (L), and whorls (W). The loop may be further classified into ulnar (Lu) and
radial loop (Lr) based on the opening side. Such classification of finger patterns may
be identified from the occurrence of triradius i.e. whorl posses two triradii,
while only one triradius is present in loops. On the other hand, triradius is absent
in arches.
• Classification of Racial groups can also be made on the basis of frequency
distribution of finger patterns.
• In general, whorls are most frequent among the Mongoloid population and least
among the Caucasoid population.
• On the other hand, loops appear most frequently among the Caucasoid groups,
while among the Mongoloid and Negroid groups - loops are found more or less
equal frequencies.
Measuring of skulls and the racial classifications
Blumenbach, the father of physical anthropology and the founder of racial classifications, had
an extensive collection of human skulls. This enabled him to empirically investigate
differences rather than merely speculate about varieties based on the second-hand
observations and European traveller’s accounts. He assumed that Homo sapiens had been
created in one place and then spread across the world, and climate, environment, different
modes of life, and the transmission of acquired characteristics shaped these peoples into
different races.
He divided humans into five varieties based on skull shape, namely the Caucasian, Mongolian,
Ethiopian, American and Malay (Polynesian, Melanesian, and aborigines of Australia).
Blumenbach coined the term “Caucasian”, derived from the mountain range between Russia
and Georgia and for him the ideal skull type was the Caucasian, with degeneration in other
skull types.
SEROLOGICAL AND GENETIC CRITERIA
Determine the variation of genetically determined biochemical factors or characteristics.

The variation in biochemical factors is seen within the population & within the family.
Morphological criteria like skin, nose & hair vary in their expressions. The genetic potential
is expressed to a varying extent and is different throughout the course of development.
In addition the relationship between them & genetic sequence can be traced but the end
result can be rarely identified in the genetics of these quantitative characters.
Advantages of serological criteria

• Easy to examine and possible to identify very small qualitative differences.
• Possible to identify end result on examination of the genetic sequence.
• No observer bias.
Hence the variations (with respect to serological criteria) are of interest genetically and
anthropologically. Its important from an evolutionary perspective also because they reflect
the presence or absence of same gene. Most of them have mendelian inheritance pattern
and are Not affected by environment.
Hence simple, genetically determined biochemical variations can be

identified and counted with in populations, as well as population can be compared in respect
to the frequencies of the genes. Anthropologists do not focus on the relationship of these
genetic variations to health & disease. Usually they seek common variants of known or
unknown pathological significance, which can be used to trace the historic connections
between people.
Boyd (1950) argued unacceptability of skeletal analysis in racial classifications as skeletal

morphology is difficult to determine in the living people. The skeleton adapts quickly to
environmental conditions, skeletal characteristics are controlled by the action of many
genes. According to him, the genetic classification of races is scientifically accurate than
older classifications; the differences we find between races are inherited in a known
manner, not influenced by environment and there is no discrimination against any subject.
Boyd used “non-adaptive” traits in the blood such as ABO, Rh and MN blood groups, PTC
tasting ability, ABH secretor system and other “non-adaptive” morphological traits to
“tentatively” classify humans into six races → Early European, Lapp, North West European,
Eastern Central European, Mediterranean, African, Asian, Indo-Dravidian, American
Indian, Indonesian, Melanesian, Polynesian and Australian (aboriginal)
GENETIC POLYMORPHISM AND RACIAL CATEGORIES:

Analysis of pedigrees of polymorphisms, shows whether they are due to allelic or closely
linked genes. Those that are allelic (or linked) constitute a system eg:- ABO system.
There is no evidence of linkage between the different blood group systems and most are
known to be inherited independently of one another. They are also independent in evolution.
Gene frequencies of one system can change while
Linked → Linked genes are genes
those of another remain the same. There are enough
that are likely to be inherited
mutually independent systems of blood group
together because they are
antigens to permit anthropologists to classify the
physically close to one another
present day populations into meaningful patterns that
on the same chromosome.
reflect historical relationships over centuries. When
During meiosis, chromosomes
national & tribal groups are classified according to the
are recombined, resulting in
frequencies with which they possess genes for
gene swaps between
different antigens, fewer & smaller differences are
homologous chromosomes.
usually found to exist among the neighbouring & those
with common origins than widely separated origins.
Polymorphic variations are found in human blood group systems, serum
proteins, haemoglobin, enzymes. Few in other blood fluids also, as one amino acid in urine
and the secretor factor & other components in saliva. Now lets look at some examples of
Genetic polymorphism and their distribution
1. ABO blood group

Distribution O > A > B
Geno type Phenotype World distribution

AA,AO A ◼ Peripheral distribution
BB, BO B ◼ Central distribution
AB AB
OO O ◼ peripheral
a. Blood group B
- Occur in higher proportion in areas of urban civilization as it has some advantages like
resistance to epidemic disease such as plague & small pox.
- Very much prevalent in Asiatic people. Maximum among Mongoloids (35-37%)
- frequency reduces as we move westwards
- Absent in North & South American Indians
b. Blood Group O – is minimum at the centre of the European, Asian & African
landmass; Highest frequency among American Indians.
c. Blood Group A – Peripheral distribution – highest in central & Western Europe.
Natural selection and ABO

2. MNS System
Blood Group-
- Antibodies don’t exist in humans
O- Duodenal & gastric ulcer
- Blood groups M, N & MN are present
A- Carcinoma stomach & cervix,
in humans
small pox
- Vary throughout→ suggesting
B- Infant diarrhoea
different genotypes are advantageous
O- Bubonic plague & malaria
under different conditions.
More recently antisera anti-S & anti-S are

prepared and have close relation to M & N. The system are therefore referred as
MNS system (S linked with M N therefore it is a linked system)
3. Rh System:
Rh-ve is rare is mongoloids & higher in whites.
4. Secretor factor:
The secretor factor is of value in genetic comparison of populations. The capacity to secrete
antigens of the ABO blood group in saliva and other body fluids, controlled by a pair of allelic
genes designated → Se and se; The saliva of secretors contains blood groups A, B or H. The
saliva of non secretors (genotype sese) Contain no blood group substance.
5. Haemoglobin :
The various polymorphic types are HbA, HbF, HbS (Sickle cell anaemia), HbC, HbE (both found
in malaria endemicity)
6. Glucose 6 phosphate dehydrogenises (deficiency)

- It is a Protein found in RBC.
- Certain populations show deficiency of this enzyme. They are found in Africa, Asia,
Indonesian, Islands, Burma and India
- Distribution is correlated to malarial infection by plasmodium falciparum.
Most anthropologists would now prefer to study the various blood group systems in their
variations, distributions & changes with reference to ecological settings, disease &
migrations, without invoking any concept race that applies of overall appearances. Analyses
of geographical distribution of blood group are a substitute for and not an adjunct to, racial
classification & its interpretation.
RACIAL TRAITS IN RELATION TO HEREDITARY AND ENVIRONMENT :
People owe their differences to genetic and environmental factors and their interaction. A a
gene may influence many characters & character may be influenced by many genes, the facts
of heredity are very complicated. The original roots of racial diversity is partly because,
particular traits were produced to suit particular environment conditions. Further when these
traits are acted upon by natural selection and other processes like mutation etc, races are
formed. All these process amount to gradual changes in allele frequencies in different lines
of descent.
Environment also acts in variety of ways to influence the racial traits. The factors that
influence in the environment are
1. climatic
2. cultural
3. Nutritional
Some categories can be recognized which are affected by both. These are broadly categorised
as
(1) differences due to accident eg:- pregnancy complications
(2) differences due to adaptive response,
(3) differences due to cultural influence
Climatic factors influencing racial traits:

(a) Prevalence of certain diseases in certain climates:
✓ sickle cell anaemia in tropics leads to presence of sickle cell gene in heterozygous
conditions Eg: Africa, Mediterranean, central Indian tribes. They provide protection
from Malaria, and has selective advantage in such environment.
✓ Why? prevalence of parasites and intermediate hosts in tropics eg: Malaria,
hookworm, yellow fever – resistance to all these depends on a large extent upon
hereditary factors & capacity to survive with parasites, which is selected by nature.
✓ Hence people in tropics differ from temperate inhabitants
(b) Physiological adaptations for climatic regimes:
✓ The genetic selection of various bodily characters for life and diverse climate has
been superimposed by physiological plasticity
✓ eg:- Heat tolerance of races living in hot climate like Nigerians, Kalahari bushmen
etc.,
✓ Differences in average physique conform to Bergmann & Allensrule
✓ Variation of subcutaneous fat- American negros have lesser skin fold thickness than
whites.
1. Growth pattern:
✓ Growth is prolonged & maturation delayed in warm periods

which allows for greater height / unit
✓ In high altitude- Growth is delayed- due to demand of chest (larger
chest to increase lung capacity) and bone marrow ( increase
production of Red blood cell)
2. Shape of nose : climate has high correlation with shape of nasal aperture. Its
concerned with moistening of inspired air. Hence narrow nose is found both in
hot & cold deserts.
3. Facial features: eg:- Mongoloid features is adapted to life in extreme cold like
reduction of brow ridges & frontal sinuses, flattening & widening of orbital
region to allow more fat and reduction in nasal prominence.
The above discussion indicates some functional advantages of certain body characters &
their regional occurrence in certain people.
On the basis of twin studies, its known that variation in body size, shape, fat deposition are
determined largely by genetic constitution than by purely environment factors.
It has been suggested that exposure to higher temp during growth period can result in
morphological changes. This capacity to make immediate responses may have resulted into
rapid selection & establishment of growth patterns in some population genetically. Each
major racial group (Caucasoid, Negroid etc) occupies a wide range of climate partly because
of acclimatisation and partly because of change in body size & partly because of technological
adjustment.
Cultural factor:
✓ Some cultural factors have direct bearing on the gene pool of a population and hence
on a race.
✓ These relate to socio cultural factors that favour certain genes over others, like-
- Inbreeding & choice of mates
- Medicine & genetic counselling
Nutritional factor :
✓ Two important factors determine the nature of nutrition in any population.
(i) climate which favours growth of certain foods,
(ii) cultural factors that affects pattern of consumption
✓ Fredrick Husle discussions the impact of food preferences. Staple crops may lead to
deficiencies which in turn act as selective forces in the population eg:- maize → cause
disease pellagra, Rice → Beri Beri.
✓ These deficiencies eliminate large

European plains- peasants
number of children. If they are
- Depends on grains for livelihood
endemic, average body size is small,
- Soil deficient in calcium
delayed growth. In such cases certain
- Farm work→ so need more
genotypes would be selected
children, but many die due to
(response to nutritional stress)
epidemics
✓ Eg: In temperate & Arctic areas, its
found that regression of average of is The body type evolved has to resist these
correlated with temp of coldest stresses
month. In Centreal America, Peru,
❖ Slow growth may give protection
Mexico, average weight is low (Staple
against TB
food is maize)
❖ Low BMR helps nutritional problems
In these countries if provided with adequate ❖ Small body size
nutrition, they grow faster. But selection has ❖ Small bones because of calcium
been at work for such a long time average deficiency
body size is still small.
Poor nutrition → selection (acted for a long time) → average body size is low
Recently it has been suggested that the practice of dairying has led to still further
evolutionary changes in human population. All infant mammals have lactase and not present
in adults. Studies have revealed that lactose intolerance is common in many parts of world
but rare in US. R.D.Mc Cracken has reviewed the available data bearing upon this prob. It
suggests that selection has operated to increase the number of people with ability to
synthesize lactase.
But contrary evidence is found in India where there is high frequency of lactase deficiency,
despite widespread use of milk. Thus Heredity & environment are mutual forces at work that
lead to existence of variation.
Heredity provides the equipment & environment decides how much it can be used.
Racial classification and differentiation

Here are some important Racial classification and the evolution of the same. All the
classification may not be remembered for the examination, but reading them will give you an
idea of the development that took place in this field. You can select a couple of them to be
remembered for the examination…
Initially the scientists were primarily concerned with ordering, naming, and classifying the
diversity of life found on the earth. Classifications simplify and bring order to the complexity
in the natural world, making it easier to understand and study variation. As the Europeans
began exploring the world, naturalists and other writers published descriptions of the people,
who looked and acted differently.
The first published classification of humans into distinct races seems to be by François
Bernier’s (1684), who divided people into various types, namely, the Europeans, Africans
(Negroes or blacks), Asians (Far Easterners) and Lapps. Western Scholars viewed humans as
“natural beings.” Carl Linnaeus, the great classifier, placed human beings at the top of the
chain of nature in a classification along with the primates. He not only classified all living
things but also attempted to classify the varieties or subspecies of humans. Linnaeus (1735)
separated humans into four basic “varieties” on the basis of geography, colour, humour,
posture, and customs. These were termed as the American, European, Asian and African
Carl Linnaeus classification
(a) Homo Americans

(b) Homo Europeans
(c) Homom asiaticns
(d) Homo afer
Blumenbach in 1795 classification was similar to that of his teacher Linnaeus. He classified
them into 5 groups, namely
1. Caucasian
2. Mongolian
3. Ethiopian
4. American
5. Malay (Polynesian, Melanesian, and aborigines of Australia)
The emphasis on cranial morphology, anthropometrics and anatomy during the late 19th
century encouraged the continued use of the typological approach in anthropology during
the 20thcentury. New methods of quantitative analysis were developed, but the typological
paradigm continued, changing little in the way the anthropologists studied human variation
and classified races. Using morphological data, Coon et al. (1950) distinguished six
groups of mankind namely the Negroid, Mongoloid, White, Australoid, American Indian and
Polynesian which were further grouped into thirty races.
Advent of the Darwinian model of evolution and Mendelian genetics in the beginning of the
20th century, questioned the scientific validity of characteristics used as racial criteria and
necessitated a radical reconsideration of the concept of race.
Using ABO blood group data and the racial index Ottenberg (1925) Snyder (1926)
of Hirschfeld and Hirschfeld (1919), Ottenberg
European
(1925) suggested that there were six main types European
(races) of humans. These types only partially Intermediate
corresponded to the racial groupings based on Intermediate
Hunan
other characteristics. Snyder (1926), using Hunan
similarity in the frequencies of the ABO blood Indomanchurian
groups, came up with the seven-fold racial Indomanchurian
Africo-Malaysian
classification that was very similar to that of
African-South Asiatic
Ottenberg. He advocated the use of blood Pacific-American
group data as additional criteria for racial Pacific American
classifications, citing advantages such as their Australian
stability under varying environments and simple
inheritance.
Boyd used “non-adaptive” traits in the blood such as ABO, Rh and MN blood groups, PTC
tasting ability, ABH secretor system and other “non-adaptive” morphological traits to
“tentatively” classify humans initially into six races and later expanding and updating his
classification to thirteen races.
Early European, Lapp, North West European, Eastern Central European, Mediterranean,
African, Asian, Indo-Dravidian, American Indian, Indonesian, Melanesian, Polynesian and
Australian (aboriginal)
Earnest Albert Hooton was an American physical anthropologist known for his work on racial
classification. Hooton suggested a four fold classification of composite races, which is the
result of cross breeding amongst the primary races.
1. White (European, Eur-African, caucosoid): This group includes six primary and two
composite sub races. The primary sub-races include Mediterranean, Ainu, Keltic,
Nordic, Alpine and East Baltic while composite sub races include Armonoid and
Dinaric.
2. Negroid: This group includes African Negro, Nilotic Negro and Negrito
(Pygmies) belonging to the primary sub-races.
3. Mongoloid: This group include Classic and Arctic Mongoloid (Eskimoid), Primary sub-
races.
4. Composite Races: This group further classified into three categories:
i. Predominantly White – This group includes Australian, Indo-Dravidian and
Polynesians.
ii. Predominantly Mongoloid – This group includes American Indian and
Indonesian Mongoloid or Indonesian-Malay.
iii. Predominantly Negroid – This group includes Melanesian Papuan or Oceanic
Negroids, Bushmen - Hottentot and Tasmanians.
Ashley Montagu Classification In 1951:

Student can remember this classification for the exam. It is well accepted by many
anthropologist.
Ashley Montagu proposed a classification, which was accepted by many anthropologists. He
used skin colour, hair form and head form. He classified mankind into three main groups,
viz.1) Negroid 2) Mongoloid and 3) Caucasoid. He further pointed out that another division
which is larger than an ethnic group may be distinguished as Australoid, who is in fact archaic.
The physical characteristics of the three major races are as follows:
He classified races into 3 major groups
Characters Caucasoid Negroid Mongoloid

Skin Colour Light reddish white Brown to Brown Light yellow to
to olive brown. Some Black. Some are yellow brown. Some
are brown yellow-brown are reddish Brown.
Head Hair Light blond to dark Brown-Black in Brown to brown
brown in colour, fine colour, coarse in black in colour,
to medium in texture, curly to coarse in texture,
texture, straight to frizzly or woolly in straight in form
wavy in form form
Head form Dolichocephalic to Predominantly Predominantly
branchycephalic, dolichocephalic, branchycephalic
Height is medium to Height is low to height is medium
very high medium
Body Hair quantity Moderate to profuse Slight parsely distributed
Face Narrow to medium Medium broad to Medium broad to

broad narrow. Prognathism very broad. Check
is very often present bones are high and
flat
Cheek bones Not prominent - Prominent
Eyes Colour is light blue to Brown to brown Brown to dark
dark brown black brown. Mongoloid
eye fold is very often
present
Nose Leptorrhine to Platyrrhine, usually Mesorrhine to
mesorrhine, usually bridge is low playtyrrhine, usually
bridge is high bridge is low to
medium
Chin Usually projecting Slight medium
Lips Very thin to medium, Thick, much aversion Medium thickness

small aversion with aversion of
membranous often
heavy integumented
lips
stature Medium to Very short to tall Medium to short
tall
ABO Blood Group Relatively high Relatively high High incidence of A1,
incidence of A2 incidence of A2, very low frequency
comparatively high of A2
incidence of B
Rh. Factor Highest frequency of Moderate frequency Rh negative is rare

Rh negative of Rh negative
Dermatoglyphics Low Great dispersion High

pattern intensity ranging from higher
to lowest
Main Line Marked transversally Longitudinal Longitudinal
type-ii of D line alignment alignment
termination quite
frequent
Variation in Genetic makers
Carried out to study/understand genetic variations (genetic history, origin & affinities) among
the indigenous population. A trait can be used as a genetic marker in study of individuals,
families (or) populations provided that the trait is:
✓ Genetically determined
✓ Has simple pattern of inheritance
✓ Can be classified accurately
✓ Variations are common enough to permit it to be labelled as genetic
polymorphism
Classification of Genetic marker in Blood:-

A. Red cell antigen: (a) ABO blood group antigen (b) Rh antigen
B. Human leucocytes antigen (HLA)
C. Serum protein
D. Serum enzyme
* As individuals are specific in relation to these genetic markers, number of phenotype are
seen in population with reference to specific antigen → that means blood polymorphism
exists in the population.
Blood Group as genetic Marker:

Medically significant blood polymorphism include : 1. ABO blood group system, 2. Rh Blood
group System 3. HLA system.
They act as genetic Markers because :

1) All individuals in human population are not one & the same.
2) Follow simple patter of inheritance
3) Frequency is different is different population
4) Not influenced by environment factors or age.
ABO BLOOD GROUP SYSTEM:
A discussed earlier, ABO system is determined by multiple allelism → A, B and O genes
located @ ABO locus on long arm of chromosome number 9.
• Now → numerous, subtype of A and B have been detected → A1, A2 etc.
• Gene O is recessive to A and B while A & B are co-dominant to each other.
• Blood group antigens are structures present on the surface of the RBC membrane &
they are the product of blood group genes of 9th chromosome. Normally if a person
Antigen Antibody Blood group
• has an antigen in his RBCs, his A B A

plasma has natural antibodies B A B
against the other antigen. This is A,B - AB
shown in table-1. - A,B O
• Depending on the presence or Table-1
absence of antigen & antibody following phenotype (Blood group) and their
corresponding 6 genotypes are seen in Table-2.
• The blood group, antigen- antibody, reaction is called isoagglutination. It is on the
basis of this reaction, blood group of individual can be
Genotype Phenotype
determined, with the help of standard antisera that
AA A
are available.
AO A
BB B
A. Medico legal aspect of ABO series-
✓ Disputed parentage BO B
✓ Cases of illegitimacy AB AB
✓ Criminal proceedings- disputed cases of claimants OO O
Table-2
B. distribution of ABO blood group genes in various population

1. Relative frequency of different blood group
O 47%
From these percentage → O & A
A 41%
genes occur frequently whereas B
B 9%
gene is infrequent out of the 3.
AB 3
2. Gene A – Some region of Europe & Asia and Australian tribes- somewhat peripheral in
distribution.
3. Gene B- North India & central Asia and absent in Australian tribes ie centrally distributed
4. Frequency of B gene reduces and that of A gene increases as one proceeds west ward
from the pacific coast of Asia to the Atlantic coast of Europe.
5. Among the American Indians of central and south America, A and B genes are absent.
But the American, Indians of North America have only A genes not B genes.
6. O Gene - Minimum in central Europe, Asian and African land mass & reaches highest
among American tribes.
❖ These geographical gradient of A and B genes gives us an indication that blood group
are affected by environmental selection, therefore the blood groups are subjected to
natural selection
❖ For example - relatively high ratio of the gene for blood group B may occur in
the areas of urban civilization, due to some advantage of its possessors in resistance
to epidemic disease such as plague & smallpox.
C. ABO blood group and racial Criteria:

The relative frequency of the 4 main blood groups among different population are used as
racial criteria.
Caucasoid Negroid Mongoloid
ABO Blood Group Relatively high Relatively high High incidence of A1,
incidence of A2 incidence of A2, very low frequency
comparatively high of A2
incidence of B
Boyd informed the following advantage of using Blood group for racial classification:
1. Inheritance is known – according to Mendelian principle
2. Not altered by environment
3. Frequency is stable in population
4. Probably arose very early in course of evolution
5. Considerable correlation between geography & the distribution of the blood group.
6. There are sharply distinguishable
Ottenberg’s Racial classification

Ottenberg’s was the first scientist to attempt racial classification based on blood group, ABO system. In
1925, he classified mankind into six groups, viz., Europeans, Intermediate, Hunan, Hindu, Manchu, Afro-
Malaysian and Pacific- American. Later Snyder (1926) proposed a new classification with seven groups, viz.,
European, Intermediate Hunan, Hindu-Mancho, Afro-Malaysian, Pacific American and Australian.
Wiener’s classification
Wiener (1946 and 1948) proposed another classification on the basis of ABO blood groups, MN Blood type
and Rh blood factor into six groups, viz. Caucasoid, Negroid, Mongoloid, Asiatic sub group, Pacific Island and
Australian, Amerindians and Eskimos.
Boyd’s Classification
In 1958, Boyd modified Wiener’s classification and proposed six groups comprising thirteen races as follows:
i) European Group - (1) Early European (2) Lapps (3) North-west Europeans, (4) Eastern and Central
Europeans, and (5) Mediterraneans.
ii) African Group - (6) The African races, excluding inhabitants of North Africa, which belong to European
group.
iii) Asian Group - (7) The Asian races (8) Indo-Dravidian.
iv) American Group - (9) American Indians
Maps show the approximate frequency distributions of type A and type B blood
D. ABO Blood groups and diseases:

Certain blood group showed association with certain diseases:
• B Blood group → plague and small pox; Infant diarrhoea
• O blood Group → gastric and duodenal ulcer
• A blood group → cancer of pancreas, stomach, ovary, diabetes
• ABO incompatibility: occasionally haemolytic disease of the new-born results from
incompatibility between mother & child → still birth/infant death. (may be regarded
as mechanism of selection)
Some correlations between blood type and susceptibility to diseases have been
suggested.
Type A has been statistically associated with bronchial pneumonia, smallpox, and typhoid;
type O has shown correlations with bubonic plague. Among the data that support some
connections among these factors is the low frequency of type O in India, where there is a
long history of frequent plague epidemics. There is some evidence that mosquitoes are
more attracted to type O persons. If so, then diseases carried by mosquitoes, such as
malaria, would also be influenced, although indirectly, by blood type. There are
correlations as well between blood types and non-infectious gastrointestinal diseases.
Type O persons appear to have a greater chance of duodenal and stomach ulcers and type
A persons of stomach cancer. Most people have blood-group antigens in their body fluids,
including their gastric juices, as well as in their blood, and so there may well be some
reactions between these antigens and chemicals in the food one eats. Along the same
lines, there may also be reactions between blood antigens in the digestive tract and some
intestinal bacteria. Individuals of certain blood types may be more or less affected by
bacterial ailments such as infant diarrhea.
RHESUS BLOOD GROUP SYSTEM (OR) RH BLOOD GROUP SYSTEM:

During 1940 Landsteiner and wiener demonstrated the Rh factor in rhesus monkey’s
erythrocytes.
Sector Factor:
- Person who possess it → Rh positive
✓ In some → substance
- Who lacks it → Rh negative
called secretors
- This Rh system is independent of other blood group
✓ Evidence of their ABO
system.
status is found in saliva &
❖ For routine purpose- the typing of persons as Rh +ve or
in other body fluids
Rh –ve depends on the presence or absence of antigen
✓ Those who lack A and B
D or RhO antigen on red cells & hence can be
antigens have
accomplished by testing with anti D serum. This is
corresponding antibody.
because D is the most powerful Rh antigen & account for vast majority of Rh
incompatibility reactions.
❖ There is no natural anti-Rh antibody is the serum. They arise only as a result of Rh
incompatible pregnancy (or) transfusion.
❖ Distribution of Rh + ve in different race
✓ European descent – 85% Rh +ve
✓ Indians – 93 % Rh + ve
Additional Blood Types: In additional to subgroups of Rh & ABO, there are large number of
other antigen that are independent of previously mentioned system. These include the Diego,
Duffy, Kell, Kidd, Lewis, Lutheran, and MNS systems
✓ Often discovered when an individual receive repeated transfusion for some disease &
then develops serum antibodies for an antigen for a type he or she lacks.
✓ In other blood group system- antibody is not normally found in the individuals who
lacks the antigen- therefore less significant for blood transfusion. However significant
for anthropologist coz…
- Distribution of blood group genes to divide the human species into race
- Understand the variation, distribution & changes with ecological settings,
disease & migrations.
NOTES
Human leukocyte antigen (HLA) system
The human leukocyte antigen (HLA) system or complex is a gene complex encoding the major
histocompatibility complex (MHC)
proteins in humans. These cell-surface
proteins are responsible for the regulation
of the immune system in humans. The HLA
gene complex resides on Short arm of
chromosome 6 (6p21).
• HLA genes are highly polymorphic,
which means that they have many
different alleles, allowing them to
fine-tune the adaptive immune
system.
• Function in Immunity: For example,
if the cell is infected by a virus, the HLA The major histocompatibility complex
system brings fragments of the virus to (MHC) is a set of genes that code for cell
surface proteins essential for the
the surface of the cell so that the cell
acquired immune system to recognize
can be destroyed by the immune
foreign molecules, which in turn
system. determines histocompatibility. The
• The proteins encoded by HLAs are main function of MHC molecules is to
those on the outer part of body cells bind to antigens derived from
that are (in effect) unique to that pathogens and display them on the cell
person. The immune system uses the surface for recognition by the
appropriate T-cells.
HLAs to differentiate self cells and non-
self cells. Thus it plays a very important
Transplantation
role in organ transplantation. Any cell
Arranging of foreign cells, tissues,
displaying that person's HLA type belongs
organs into body of a recipient is called
to that person and, therefore, is not an as transplantation/ grafting.
invader and body will not produce Histocompatibility is a condition in
antibody against it. which the recipient should not show
• When a foreign pathogen enters the any adverse reaction. This happens
body, specific cells called antigen- when there is antigenic similarity
presenting cells (APCs) engulf the between the donor & recipient organ/
tissue.
pathogen through a process called
Most important tissue antigen for
phagocytosis. Proteins from the causing graft rejection are a complex
pathogen are digested into small pieces called HLA.
(peptides) and loaded onto HLA antigens.
They are then displayed by the antigen-presenting cells to CD4+ helper T cells,
which then produce a variety of effects to eliminate the pathogen.
• The MHC genes are highly polymorphic; many different alleles exist in the different
individuals inside a population. The polymorphism is so high, in a mixed population
(nonendogamic), no two individuals have exactly the same set of MHC molecules, with
the exception of identical twins.
HLA System: 5 closely linked loci associated with short arm of chromosome 6 is responsible
for this. HLA and Disease
They are arranged as A, B, C, D and DR Some HLA type have an association with
The alleles associated with the various loci of the certain disease (increases risk factor)
HLA region are ✓ Ex: B27- Ankylosing
A-20 allele Spondylitis
B-42 allele ✓ DR3, B8, - Diabetic Mellitus
C-8 allele ✓ DR4 - Rheumatoid arthritis
D-22 allele ✓ B8 – Chronic hepatitis
Dr-7 allele ✓ DR3 –Thyrotoxicosis
These alleles are broadly divided into 3 groups
• Those that are frequently high in all populations like A2.
• Those that are present in all but are high in some groups Ex- A1 in Africa
• Alleles confined to some population Ex: BW42 in Africans.
Considering the number of alleles, more than a trillion combinations are possible → therefore
virtually impossible for 2 persons except in case of identical twins, to have the same 6 HLA
complex of antigens. Out of about 50 different HLA antigen, only 6 antigen is present, on the
tissue cell membrane of each person. It is determined by the genes present on the short arm
of chromosome 6.
Some of the antigens in HLA system are not severely antigenic and hence by obtaining
the best possible match between donor & recipient, the grafting procedure has become far
less hazardous.
Conclusion:
Inside a population, the presence of many different alleles ensures there will always be an
individual with a specific MHC molecule which will be able to recognize a specific microbe.
The evolution of the MHC polymorphism ensures that a population will not succumb to a
new pathogen or a mutated one, because at least some individuals will be able to develop
an adequate immune response to win over the pathogen. The variations in the MHC
molecules (responsible for the polymorphism) are the result of the inheritance of different
MHC molecules. Because of the high levels of allelic diversity found within its genes, MHC
has also attracted the attention of many evolutionary biologists
Gm Groups:
Basics of Antibodies: Antibodies contain4

polypeptide chains
❖ Long chain/ heavy polypeptide chain (H): 5

class – , , , ,  r
❖ Light chain/ short polypeptide chain (L)-
Kappa, Lambda
❖ Disulphide bonds hold each light chain to
heavy chain & 2 heavy chains.
❖ Short carbohydrate chain are attached to
each heavy chain.
❖ Based on chemical structure of long chain- antibodies are—IgG, IgM, IgA, IgD and IgE
❖ Each heavy & light chain has variable region (V) and constant regions
❖ Variable region is the Antigen binding site and is different for different antibody
❖ Constant region of H and L chains is nearly the same in all antibodies of same class.
However variations constant regions are present in different classes of antigens.
These Variation are used as genetic markers. There are different system. They include:
Gm System- associated with heavy chain of IgG
Distribution of Gm
Am System- Associated with heavy chain of IgA
System
IgG can be subdivided on the basis of antigenic differences &
IgG1 → 70%
variations in H chains into 4 sub classes- IgG1, IgG2, IgG3,
IgG2 → 19%
IgG4. This is Gm System.
IgG3→8%
*Steinberg studied about GM factor in Sidamo tribes of Ethiopia
IgG4→3%
& Ainu tribes of Hokkaido of Japan.
Blood Protein Polymorphism

The Blood protein which act as genetic marker are : 1). Haptoglobins 2). Transferrin
HAPTOGLOBINS (Hp)
• It belongs to a globin class of proteins that is capable of binding free haemoglobin that
has escaped from the RBCs
• Prevent haemoglobin from damaging kidney & to conserving iron by destruction of
free Haemoglobin in liver.
• Hp → found in blood serum, can be separated by electrophoresis
• Smithies (1955) identified 3 types of Haptoglobins Type 1-1, 2-2, 2-1
• Family study indicate- pattern is inherited & more than 1 allele is involved, & are
named – Hpy1 and Hpy2.
Based on Population studies:
• Hpy1 → highest (>60%) tropical, 40% western Europe , 30% South Africa, 10% Asia.
• Selective force→not clear
• Infection and inflammation → higher level of Hp found
• Hpy2 → Found in man throughout world- suggest that it was present in early human
ancestors
TRANSFERRINS:
• Iron binding  globulin in Blood plasma that control the level of free iron (Fe) in
biological fluids. Human transferrin is encoded by the TF gene..
• Physiological function.
✓ Medium for the distribution of Iron ie transportation of iron.
✓ May influence – adaptation of species to climate
• Several (20) molecular varieties of transferrin were identified by difference in
electrophoresis mobility, on starch gel.
• Genetic control→ It is controlled by a system of multiple autosomal alleles. 5
transferrin alleles were identified – TfA, TfB, TfC, TfD, TfE and these alleles produce
different phenotypes in different combinations.
• The product of the individual transferrin allele appears a 2 bands on the starch gel.
The A bands are the fastest & E band is the slowest
✓ C type → most common (TfC); Found in all population of world. Appears as a single
band on gel electrophoresis.
✓ TfD→ slower variant; common is Africa, Australia & New Gunia & adjacent Island.
✓ TfD chi→ Common in China, South-east & East Asia, Veddas of Srilanka, Some Indian
tribes & American Indian Population.
✓ B variant – Infrequent except in Navajo Indians of southwest USA.
Blood Enzymes
Blood enzyme polymorphism exists with reference to some of the blood enzymes & hence
will act as genetic markers These are:
1. Glucose - 6- phosphate dehydrogenase (G6PD)
2. Adenylate Kinase
• Present in various tissue including RBC
• Catalyses conversion of ATP (Adenosine tri Phosphate) to Adenosine Diphosphate
(ADP) to adenosine Mono phosphate (AMP)
• ATP→ ADP→ AMP
• The commonest phenotype is AK1
• Another allele AK2 mostly seen in heterozygous form along with AK1 ie AK2 AK1
• AK2→ 2-5% in European but in African & Asian it is very less.
GLUCOSE 6 PHOSPHATE DEHYDROGENASE (G6PD)

NADPH (Nicotinamide adenine dinucleotide phosphate) maintains the level of Glutathione
which is essential for the protect RBC against oxidative damage Enzymes whose
Deficiency of G6PD → reduction in NADPH → destruction of RBC → function is same but
Haemolytic Anaemia & Jaundice different
Therefore G6PD—Essential for assuring Normal lifespan of RBC & for structurally
oxidizing process Isoenzymes.
• G6PD, which is found in number of tissues including
erythrocytes, is an is enzyme. Each enzyme differs from normal one in one or few
amino acids.
• The Normal form is Gd(B+) other variants are Gd(B-), Gd (A+), Gd (A-)
• G6PD deficiency is an a inherited X linked trait. Homozygous female are

clearly deficient. But heterozygous female, show various degree of deficiency & hence
the genes involved are incompletely dominant genes.
Population variation
• High prevalence of low G6PD seen in A study of Immuno-haemolytic disorder
malaria affected area→ such mutations among 15 major scheduled tribes in
confer resistance to malarial parasite. central east India (Orissa)
(natural selection) • G6PD deficiency – 5.1 to 15.9%
• Glutathione stability Assay/test- med to • Higher among males (4.3- 17.4%),
detect people with this problem than females (0-13.6%)
• G6PD → If such person eat fava (even • Munda – 15.9%
breath its pollen) bean → lead to • Paraja -15.9%
sudden destruction of RBCs →
haemolytic anaemia + Jaundice → condition called as Favism
✓ G6PD deficient person in Africa do not develop Favism.
✓ Person of European origin gets it.
• GD canton → G6PD deficiency found in 5% of southern Chinese people.
• GD Markham → Low land areas of New Guinea.
• GD Mediterranean → around countries surrounding Mediterranean sea.
• Other areas: Africa, S.E.Asia, Indonesian archipelago, Burma, India.
• Such person treated with antimalarial drug, primaquine develop Haemolytic Anaemia
Study of Genetic heterogeneity of Population structure in 15 major scheducled

tribes in central East India: A study of immune – haematological disorder:
Observation:
• A preponderance of Blood Group B over A and low incidence of Rh-Ve among
Bathudi, Bhuyan, Kissan, Kolha, Kondh, Munda Oraon, Paraja, Santal, Saora tribes
• G6PD- 5.1 to 15.9% among ST of Orissa
• Marked variation in the prevalence of thalassemia trait varying 0 to 8.5% in the
aboriginal tribe
• Sickle cell disorder – 0 to 22.4%
• The study showed genetic heterogeneity & diversity with respect to above immune
haematological genetic markers. This indicated:
✓ Inter- tribal admixture
✓ Diffusion with other racial groups of India.
▪ Further the heterogeneous tribal population from Orissa were found to harbour
almost all major haemoglobinopathies.
Variation in Physiological characteristics

Many physiological characteristics of human population show variations related Age and Sex.
These include-
✓ Haemoglobin Level
✓ Blood Pressure
✓ Body Fat
✓ Respiratory Function
✓ Pulse Rate
✓ Sensory perception
Haemoglobin (HB) level:
Haemoglobin, abbreviated Hb or Hgb, is the iron-containing oxygen-transport protein in the

red blood cells (erythrocytes) of almost all vertebrates. Haemoglobin in blood carries oxygen
from the lungs to the rest of the body (i.e. the tissues). There it releases the oxygen to permit
aerobic respiration to provide energy to power the functions of the organism in the process
called metabolism.
• A healthy individual has 12 to 20 grams of haemoglobin in every 100 ml of blood.
• Normal Variant:
✓ Fetal hemoglobin (HbF), is found in the developing fetus, and binds oxygen with
greater affinity than adult hemoglobin. It also releases Co2 more readily. As a
result, fetal blood in the placenta is able to take oxygen from maternal blood.
✓ Adult Hemoglogin (HbA)- the
main form of hemoglobin
present. It is coded for by the
genes, HBA1, HBA2, and HBB
• Mutual Form—HbS, HbC, HbE.
Mutations in the genes for the
hemoglobin protein in a species
result in hemoglobin variants.
Many of these mutant forms of
hemoglobin cause no disease.
Some of these mutant forms of
hemoglobin, however, cause a
group of hereditary diseases
termed the hemoglobinopathies.
The best known
hemoglobinopathy is sickle-cell
disease (Did you know? Sickle
cell disease was the first human disease whose mechanism was understood at
the molecular level). All these diseases produce anemia
▪ Hb level shows variation with age:
✓ During foetas age – the concentration is highest about 23 gm/ 100 ml.
✓ By 3rd month it falls but by 1 year it recovers to about 12.5gm
✓ Gradual increase in the level of Hb till age of by 30 years
▪ Variation with Sex:
✓ Males- 15.8gm/dl
✓ Female - 13.79gm /dl (due to menstrual loss)
✓ Average - 14.5gm/d
▪ Variation between morning & evening: In the morning it may be lower & towards
evening it rises to a higher level
▪ Developed nation > developing nation. Why? due to nutritional pattern ie socio-
economic a status is better and hence diet is better in developed country
▪ In inhabitants of high attitudes & in persons doing exercise the percentage of Hb rises
▪ Those culture which demand higher activity from their peoples have selective pressure
on higher level of Hb.
Study: Hemoglobin Variants in the Population of Northern Region of West

Bengal
Hb E is found to be the most prevalent hemoglobinopathies in this area. Rajbanshis have

been described as the predominant race in the Sub-Himalayan West Bengal and the
survivors of an aboriginal race. They have a high occurrence of hemoglobinopathies and
most of them suffer from Hb E (92.7%) trait or disease.
The high occurrence of Hb E hemoglobinopathies is also found among Muslim groups in

the area. This may be related to the fact that these Muslims are mostly converted from
regional aborigine where Rajbanshis and other similar populations are prevalent. Tribal
population of this region (Oraws, Mundas, Santals) migrated into the northern districts of
west Bengal for tea cultivation from the Chota Nagpur plateau. They have high
occurrence of sickle cell disease (34.8%) among them. The results are similar to the other
studies published from central east coast of India, from where they would have migrated.
Another new finding in this study is that though as whole hemoglobinopathies are lowest
(17.5%) among mongoloids, they show heterogeneous distribution similar to tribal
(Santhal/Oraw) groups, may be related to inter-community marriage among Nepalis/hill
men and tribals for last centuries, due to cohabitation at same places
Variation in BP
Variation with age group:

• Variation is high during growth and development up to adolescence, there after it
shows a rhythmic variation on a daily basis.
• Neonates during first day average 70/50mmHg
They systolic pressure in different age:

• Infancy- 70-90 mm of Hg
• Childhood : 90-110 mmHg
• Post puberty: 110-120 mmHg
• Old age : 140-150 mmHg
Sex: in females BP is slightly lower upto the age

of 45-50.
Body size: in obese person BP will be on higher
side.
Body condition: Emotion (or) Excitement – high
BP
• As per family studies:
✓ 16% BP variation is due to environment, factors
✓ 48% to additive genetic factors
✓ 36% to Dominance.
• Heredity is the main cause and environment, will act as precipitating factors.
• Diet, stress, strains of life, sedentary lifestyle are important factors for high BP
According to Kaplan, the population can be arranged into 3 groups on the basis of variation
of the BP.
(a) Hypertensive: SBP > 160 mmHg, DBP >95 mmHg
(b) Border line: SBP>140-160 mmHg, DBP- 90-95 mmHg
(c) Normotensives: SBP > 140 mmHg, DBP – 90 mmHg
Study:
Rural India:-
• 95% of rural Indians – Normotensives
• In many cases, have been found to be higher than borderline. This Indicate that in
majority of population persons either are Normal or Hypertensive. They have low
percentage of borderline.
• WHY? Cardio vascular system has the ability to sustain changes due to stress
& strain of environment by homeostatic mechanisms. This has its threshold- Once it is
crossed there is no scope of return & a normotensive becomes hypertensive.
• Similar studies- RamiReddy (1995) while studying B.P, Variation in Rural A.P
Normal Border hypertensive
96 2 2 Systolic
97 3 1 Diastolic
Urban: on contrary→ In industrialised population, proportion of normotensive in comparison

to hypertensive is not so high.
Another feature→ significant group of borderline hypertensive. WHY? because the
homeostatic mechanism are disturbed in such society due to nutritional & lifestyle reasons.
(fatty food, low veg/fruits)
Variation in Body Fat

✓ Heredity /Genetic to some extent.
✓ Environment plays important role
✓ 12% of Human body is composed of fat.
Age:
✓Fat begins to he laid in foetus at about 34 weeks & increases until birth & until 9 months
✓ 9 months to 8 years : Fat level reduces → due to breakdown of fat by growth hormone,
Fat content present around bones & muscle reduces and is replaced with muscle.
✓Fat level increases from 8 year to puberty
Sex:
✓ Both boys & girls show reduction in fat till 8 years, the reduction is slower in girls.
✓ In adolescence, temporary halt in increase in fat level among boys, in trunk & limbs
which is gained back after 20 years.
Nutrition level & activity with socio economic dimension:
✓ Consumption of Fat diet
✓ low activity High body fat
✓ industrial society
Ethnic Group: high deposition of fat in thighs & buttocks, a condition called steatopygia which
occurs in Bushmen & Hottentots population.
Eskimos – high fat due to fatty diet, helps them to adjust to cold climate.
Respiratory Function:
• vital capacity: Variation on basis of Sex

Male= height (cm) X 20ml
Female = height (m) X 16ml
• Europeans have higher vital capacity
Males= Height (cm) X 25ml, Female = height (cm) X 20 ml
• Old people have less vital capacity
• People living in high attitude have to face the problem of low oxygen → develop
Higher lung capacity (and also higher RBCs)
Pulse rate:
Age:
• New born/ infant → 100 to 160 beets/min
• Children 1-10 years → 70 – 120 bts/min
• Children over 10 years → 60 to 100 bts/min & adult
• Well trained athlete → 40 to 60 bts/min
• Infection/ dehydration/exercise – increase in pulse rate
• Changes in Oxygen pressure, high attitude areas & other metabolic demand on the
body may also change the pulse rate.
Sensory perception:
A person is made aware of his external environment by his sense organ. There are mainly 5
types of sense perceptions- touch, taste, smell, sight & sound.
It can be said – sense perception by different sense organs are fundamentally the same in all
human population
But…. it cannot be denied that there are variation in the form & functions, though slight, in
various cultural & socio economic groups of people. Sense perception also deteriorates with
age and hence show variation with age.
Touch:
✓ Skin of different people (races) under goes various types of pigmentation & also
thickening in the epidermal layer which modifies the sensitiveness of the skin to
various perception.
✓ Sensitivity to pain and temp generally show no diminution with age until about age 45
to 50.
✓ Older person body adjust more slowly to cold and become chilled more easily than
younger person. Old people take longer to assess the environment.
Survey conducted on sensory mechanisms.

Taste: Ability to taste phenyl thiocarbide (PTC)
✓ Various cultures of people around the ✓ Ability to taste→ autosomal polymorphic
world have different food habits and trait.
each group cultivates a sense of taste ✓ People with genotype, TT, Tt, have ability
which they appreciate and they don’t to taste the substance & genotype tt
like. It is regulated by socio-economic cannot.
and cultural trend. ✓ Female more sensitivity to PTC
Sense of smell
✓ Human brain will ignore similar messages coming continuously. That is why some
people are not conscious of bad odours emanating from their surroundings. Ex:-
people working in chemical factories, dairy farm etc.
✓ smell generally show no diminution until about age 45 to 50.
Vision:
✓ Some defects appear in the vision which are correlated with age. Example: Myopia,
Hypermetropia, cataract etc which reduces the visual acuity
✓ Some tribes have a proverbially low vitamin A in their diet and therefore develop night
blindness.
✓ The senses are sharpest during young adulthood: visual acuity is keenest at about age
of 20 and begin to decline after 40.
✓ Throughout life, the lens of the eyes become progressively less elastic, so that its
ability to focus is diminished. Middle aged people also experience a slight loss in
sharpness of vision, because the pupil of eyes tend to become smaller.
✓ Colour blindness is a common inherited condition. Red/green colour blindness is
passed from mother to son on the 23rd chromosome (X chromosome)
Hearing:
✓ A gradual hearing loss begins at age 25, especially for higher pitched sounds.
✓ Hearing loss is very common late is life taste sensitivity begin to decline at about age
of 50, since taste bud becomes less sensitive.
✓ The external ear shows many variation in different races. The sensory perception of
hearing is acute in some tribes who are hunters of wild game.
✓ In noise filled townships and cities the sense of hearing gets mitigated due to noise
pollution.
✓ Factory workers get used to mechanical noise so much that he ignores it and is able to
communicate, with the fellow workers while a new comer will find it hard hear →
Occupational adaptation.
Ecological anthropology
In this chapter, we will address these 2 questions:
How humans adapt to environmental variables?
What are the various adaptations seen in humans, specific to environments in which we live?
Living human populations inhabit every continent except Antarctica and we have to deal with
nearly every imaginable set of environmental circumstances the earth presents. We have
been doing this for just about as long as Homo sapiens has existed. Obviously, most of our
adaptations are cultural. We build shelters, manufacture clothing, make tools, and invent
various technological devices that are specifically geared to the environmental conditions
with which we have to contend. Human populations also differ in their physical appearance
and in features of their physiology. Our species displays variations in phenotypic traits that
are the results of genetic variation. This helps some of us to adapt better than others. This is
the scope of Ecological anthropology.
Ecological anthropology studies the mechanisms of human adaptability. Adaptations result
from exposure to various changes in the environment, to which humans adjust in variety of
ways. Hence the discipline is unique in its way, as it integrates the findings from ecology,
biology ,social-cultural anthropology and geography, around the problems posed by human
habitats.
Thus it is a multidisciplinary study of the dynamic interface between humans and their socio-
cultural and biophysical environments. It focuses upon how a particular population purposely
or unintentionally shapes its environment, and showcases how an environment shapes it’s
socio-cultural, economic and political life.
Understanding terms
Biological plasticity: An ability on the part of individuals to physiologically respond to
changes in the environment. This is obvious in poor environments; for example, if there is
not enough food, an animal will become thinner.
Adaptation: It is a process whereby the organism has attained a beneficial adjustment to
the environment. Adaptation encompasses the physiological, cultural, and genetic
adaptations that allow individuals and populations to adjust to their environment in which
they live.
Adaptability: The ability of an individual organism to make positive anatomical or
physiological changes after short- or long-term exposure to stressful environmental
conditions.
Acclimatization: Short-term changes in physiology that occur in an organism in response

to changes in environmental conditions. It is reversible physiological adjustments to
environmental stress.
Stress: is taken as any factor that interferes with normal limits of operations.
Differences in environments thus lead to population-level differences, as individuals within

the populations biologically adapt to local conditions. Because of biological plasticity and
adaptability, populations may phenotypically differentiate from one another without any
underlying changes to the genotypes.
Thus human response to changes in environment can be studied at different levels.
(1) population level
(2) Individual level.
Ricklefs differentiates between various adjustments by individuals* to changes in their

environment. They are:
(1) Regulatory adjustments
(2) Acclimatory adjustments
(3) Developmental adjustments
All three types operate by a process of negative feedback. This type of feedback seeks to
maintain a stable relationship between organism & its surroundings.
An effective response is the one that is of proper magnitude, occur at appropriate time and
rate, in relation to stimulus.
* At population level→ we see genotypic changes in relation to environment
Regulatory responses:
Have you noticed when people from sea level move to high altitude, they have to cope with a
reduction in the amount of oxygen available in the atmosphere. Initially, the body
physiologically adapts by breathing more quickly and increasing heart rate. This is regulatory
response.
▪ It is Rapid
▪ It Reflects physiological and behavioural flexibility.
▪ It includes Physiological responses- increase in pulse rate, shivering, increase
breathing etc
▪ It also includes Behavioural responses – like cultural strategies of clothing and
shelter.
▪ They enhance chances of survival and help us live comfortably in a variety of
environments.
Acclamatory responses:
So what happens when you stay in high altitude for a long time. Over time, more profound
changes in the body occur, such as an increase in red blood cell production, which allows
the individual to cope with a lower-oxygen environment. Tanning (to protect from sun) is
another example of acclimatization.
▪ It takes longer time to come
▪ They require a change is structure of the organism.
▪ Occur when external stimulus is present for a sufficient amount of time.
▪ Usually reversible when the situation that produced change ends. Eg:- muscle
enlargement due to physical exercise is reversed when individual starts leading a
sedentary life.
Development responses:
▪ Occur during growth and development of an individual.
▪ Hence not reversible
▪ Due to the ability of humans to mould themselves during developmental period to
the prevalent environmental conditions (genetic plasticity).
▪ It is of limited value for short term environment adjustments but better than
genetic changes (which occurs over generations- and can be observed only at the
population level).
▪ The development flexibility of human provided a more rapid mechanism for
improving survival chances and enhancing reproduction than genetic changes.
▪ Eg:- child growing in high attitude develops larger lungs and chest capacity to adjust
to low O2 conditions. An adult exposed to conditions can’t develop these.
Thus the path, the human adaptability proceed for a given population in a given environment
depends on many factors-
✓ Duration of exposure
✓ Presence of other inhabitants
A population that has existed longer in a particular environment is likely to have

developed physiological, cultural, environment or even genetic response to suite the
particular environment.
A newly migrated group may initially adjust through regulatory response or by either
innovating cultural responses or borrow from inhabitants few cultural responses. If the stress
continues, physiological change occurs and then a developmental adjustment will take place.
The purpose of these various levels of adjustment is to enhance adaptability through a
flexible hierarchy of response.
Do Allen’s and Bergmann’s rules hold for human populations? Explain with examples.
(2018 Mains- 15 Marks)
In the nineteenth century, two biologists, Carl Bergmann (1814–1865)

and Joel Asaph Allen (1838–1921), looked at the relationship between
body size and climate in a wide range of mammals. They found that
within species, there were predictable relationships between body
form and proportions and temperature.
Bergmann’s rule (1847) focuses on body size. He found that the colder
the climate, the larger the body. Why? Because as volume increases,
surface area decreases as a proportion of the volume. This would
decrease the rate of heat dissipation through the surface, which helps
to maintain a higher core temperature.
Allen’s rule (1877) focuses on the appendages of the body. For example,
limbs should be longer relative to body size in warmer climates
because that would help to dissipate heat, whereas shorter limbs in
colder climates would conserve body heat.
Body forms of peoples living in some extreme environments are
consistent with the rules. If we look at the
Inuit in the Arctic and Nilotic peoples
from East Africa, we see that the stocky,
short-limbed Inuit body seems to be
structured to conserve heat, whereas the
long- limbed Nilotic body is designed to
dissipate heat (Figure). Looking at a broad
range of populations, there is a general
trend among humans for larger body size
and greater sitting height (that is, body
length) to be associated with colder (a) Sudanese tribesmen have body types adapted to warm climates.
(b) Inuit people have body types adapted to cold climates.
climates, whereas relative span (fingertip to fingertip length divided by height) tends
to be greater in warmer temperatures (that is, longer appendages relative to body size). Here
natural selection could have been responsible for the body changes.
MEASURING SUCCESS OF HUMAN ADAPTABILITY:
Ecological success is measure by
(1) Demographic criteria
✓ Balance between natality and mortality
✓ Morbidity
✓ Population’s rate of reproduction.
(2) Energetic criteria
✓ Relative efficiency
✓ Absolute efficiency
Relates to efficiency of subsistent technologies. They are mostly sustainable at
low levels of population’s density.
(3) Nutritional criteria – It is a good index, as it reflects knowledge of resources, ability to
exploit it and achieve given level of work capacity.
However all these are only indices of adaptability and don’t measure fitness. Fitness refers to
reproductive success. The more adapted a species is in its environment greater its
opportunity for individuals to survive and reproduce. (It’s easier to define the earlier indices
than measure reproductive success)
Response to environment stress:

Human environment constitutes:
1. Natural (physical habitat)- desert, mountains, polar etc
2. Biological organism
3. Cultural environment
Stress is taken as any factor that interferes with normal limits of operations. It is central to
the study of adaptation. Adaptation can therefore be also referred as a process that restores
homeostasis. 3 environmental stresses have been studied in human adaptability.
Heat, cold and high attitude. Let us now look at Human Adaptation to these 3 environmental
stress. (Very important- asked frequently in the exam)
In general… The various ways in which humans respond to environment stress are
1) Cultural/psychological/technological (behavioural )
2) Physiological:
▪ Short term- Regulatory,
▪ Long term-Acclimatization
3) Developmental adjustments (anatomical – Biological plasticity)
4) Genetic changes.
Heat adaptation:
High insolation (or temperature) is seen in 2 kinds of environment :
1. Hot & Humid climate
2. Deserts
Human populations adapt to these conditions differently. They are discussed separately
in this section.
Since the emergence of genus ‘Homo’ in tropical region Homo sapiens have occupied diverse
tropical and equatorial habitats. Acclimatisation as a consequence of physiological changes
enable individual to inhabit wide variety of hot environments. Genetic selection of various
bodily characters for life in diverse climates has been superimposed on physiological
plasticity.
Let’s first understand the mechanisms of how humans adapts to Heat physiologically as well
as culturally (behavioural)… Generally heat adaptation occurs by loss of body heat by various
mechanism
- Radiation  4% Heat loss
- Convection & Conduction (both to air around)  6%
- Evaporation  90% heat loss
In warm heat all 3 processes convection, evaporation and radiation contribute equally. But
when temperature are very high, evaporation accounts for 90% loss.
Humans regulate a core temperature in a narrow range (35-410C) through 2 parallel process:
Physiological and Cultural / behavioural temperature regulation.
1. Physiological Responses to heat:

▪ The instant physiological response to overheating is a compensatory increase in heat
dissipation from the body accomplished mainly through adjustment of cardiovascular
system followed by sweating.
▪ There is increased flow of blood through skin due to vasodilatation to start with.
▪ Due to additional strain there is an elevated cardiac output accompanied by increased
pulse rate.
▪ The heat brought to the surface thus elevates the skin temperature facilitating
dissipation of heat to the surroundings by convection and radiation.
▪ This heat loss per unit surface area is proportional to the temperature gradient
between skin and external environment; and square-root of the wind velocity.
▪ When environmental temperature increases above the skin temperature

circulatory adjustment are not adequate for heat dissipation by convection and
radiation because of negative gradient, in fact it gains heat. This results in sweating
and heat loss by evaporation of evenly distributed sweat is effective.
▪ The sweating rate is raised by increasing the number of active sweat glands and rate
of fluid output of each gland. A maximum water loss of about 1 lt per hour, equivalent
to 2500 kJ heat loss per hour can be achieved. Although the total number of sweat
glands varies in different individuals, striking differences have not been reported
between different racial groups.
▪ The density and distribution of
Heat stroke—when the core temperature of
glands has been found to be similar
the body reaches 41°C (105.8°F)—is a serious
in different population and
condition, with the depletion of fluid from the
decreases in the order in
body unleashing a cascade of events that
o Upper limb-dorsum of hand,
ultimately leads to the coagulation of blood
forearm, upper arm
and the death of brain tissue. Even today, heat
o Lower limb-foot, leg, thigh;
waves in urban environments kill hundreds or
and
even thousands of people. Heat is thus a
o Trunk-abdomen and thorax.
strong selective force.
▪ People from the hottest regions
(South Asia, Africa, India and
Australia) had the largest surface area to body mass ratios. Such a morphological
configuration is ideally suited to the more energy-efficient dry heat exchanges, and
to a reduced reliance upon evaporative cooling (Taylor, 2006).
▪ Another adaptive mechanism is Skin color is another adaptive mechanism to the
distinct climatic conditions. Melanin pigment produced by melanocytes present
beneath the epidermis provides protection from overexposure to ultra violet
radiation which can cause genetic mutation in skin cell leading to skin cancer.
Why did populations who moved away from the equator evolve lower melanin
production and therefore lighter skin?
This is because of adaptive reason. Vitamin D can be synthesized by the body in the lower
layers of skin when a precursor of the vitamin is activated by UV radiation. This vitamin is
important in regulating the absorption of calcium and its inclusion in the manufacture of
bone. Deficiency in vitamin D can lead to a condition of skeletal deformity in children
known as rickets. Vitamin D is also important for the normal functioning of the immune
system. As populations moved away from the equator, those with darker skin could not
manufacture sufficient vitamin D for normal bone growth and maintenance and immune-
system functioning. Those with lighter skin, therefore, were at an adaptive and, thus, a
reproductive advantage. Over time, lighter skin became the normal, inherited condition in
these groups.
Thereby, natural selection has favored dark skinned individuals in area near
the equator where exposure to UV radiations is the most. Thus darkening of skin is of
prime biological importance so not only in Negroid, but a functionally effective
melanisation is present in South Indians and other ethnic groups also.
Acclimatisation to heat:
▪ Repeated exposure to heat results in acclimatisation enhancing tolerance to work
under heat stress.
▪ In a laboratory experiment, the subjects were able to work for four hours on the fifth
day of exposure, whereas they gave up after less than an hour on the first day
accompanied by better circulatory performance.
▪ The initial high pulse rate and heart output, reduced markedly. The heat regulatory
system became more efficient. The body and skin temperature, which rise rapidly to
high levels on the early exposures, rises slowly or attains a ‘plateau’ on continued
exposure to the heat.
▪ The bodily changes which are elicited under artificial conditions (acclimation) can also
be revealed in natural environment (hot climates-equatorial or desert).
▪ The complex physiological changes which lead to acclimatisation has been
demonstrated in population of different races living in hot climates e.g. Nigerians,
Chinese, Indians, and Malayans living in Malaya, Kalahari Bushmen and South African
Bantu, as well as in Europeans habituating tropics or hot deserts.
2. Cultural adaptation
▪ It pertains to the creation and maintenance of favorable environmental conditions

near the individual - microclimate, different from those in the general area. The ideal
microclimate involves lowered skin temperature, a vapour pressure gradient favoring
evaporative heat loss, and protection from conductive, convective and radiation heat
gain. It is within the extrasomatic zone that behavioural and social adaptations play
a major role by maintaining a favorable microclimate within a larger and more
stressful macroenvironment.
▪ Material Culture as habitations and clothing establish a favorable microclimate while
behavioural adaptation centre’s largely upon avoidance. Houses are constructed of
high heat capacity materials such as adobe and stone, to delay entry of heat. These
materials absorb large amount of heat before passing it into the interior and the
stored heat is lost at night by radiation and convection. The net effect is to dampen
temperature fluctuation so that interior temperature remains moderate.
▪ Pueblo Indians, Middle Eastern communities construct their house several

meters beneath the surfaces as the mean temperature of subsoil is more comfortable
that the surface with its extreme variation.
▪ In habitation above the ground, compact geometry minimizing surface area to
internal volume reduces solar heat gain as well as convention heat gain from desert
winds.
▪ Clothing, another aspect of material culture reduces abrasions, prevents sunburn and
reduces solar heat gain. This in turn reduces level of perspiration required to maintain
equilibrium. It has been proposed that well-acclimatized individual wearing clothes
perspire 30% less than unclothed men at rest which reduces the heat load of about
165 kcal/hr. (Henschel and Hanson, 1959)
▪ Chaamba Arabs, tribal population of Sahara Desert wear clothing that minimises
conductive and radiant heat gains from the environment.
▪ The insulative effects of trapped air reduce heat transmission to the skin surface.
However, clothing is less advantageous at work than at rest as it hinders the loss of
internally generated heat and loose fitting, baggy clothing is desirable. Such cases,
favors ventilation and evaporates from the skin surface. Furthermore, a light-colored
external garment may reflect radiation reducing heat gain.
Now let’s look into Heat adaptation in 2 separate environments- Desert & Hot and humid
climate…
ADAPTATIONS TO DESERTS – DRY HEAT
Environment: high levels of solar radiation, low and Biotopes with high densities of UV
random rainfall, high daytime temp and very low at radiation are also characterised by
night temperature; scarcity of plant cover . high temperature. In such biotopes a
* So inhabitants Need to adjust to cold stress during dark skin color would actually be
night (discussed in cold adaptation) disadvantageous, as it causes a
strong heating of body surface, due
- Improve thermal comfort by :
to relatively low reflectance. This is
➢ Core temperature reduced- lower rectal
explained by differences in numbers
temp
and function of the sweat glands
➢ Improved sweating- Early onset, higher among dark skinned individuals. The
rate; Redistributions- uniform (only in African groups have been able to
tropics) maintain a lower body and skin
➢ Blood flow increased. temperature as compared to
➢ Lowered metabolic rate. European light skinned people as a
- Improve exercise Performance: consequence of lower suppression of
➢ Cardiovascular stability sweat rate than Europeans (Walter,
- Lowered heart rate 1971).
- Stroke volume- increased

- Blood- pressure- balanced
- Improved myocardial compliance
➢ Electrolyte balance improved
- Increased thirst
- Reduced urine output
- reduced loss of salt in sweat.
- Heat adaptation at cellular level
- Thermal tolerance- refers to cellular adaptations from a severe non lethal heat
exposure that allows organism to survive a later lethal heat exposure.
- It is associated with heat shock proteins which bind to injured cells and provide
protection and improve repair.
- Both heat and exposure and exercise elicit HSP production.
- Body type and heat adaptation
Ideal body type of desert condition is:
- Tall (Increase surface area to weight ratio)
- Long lean extremities (Increase surface area)
- Low subcutaneous fat (reduced insulation)
- Example: Nitotic people of sudan
- Moderate skin pigmentation
- Cultural and Behavioural adjustments:
- Activity pattern:
1. Scheduled to avoid exposure to strong sun and drying winds
2. Cyclical changes in aridity → need for a nomadic way of life
3. Modifications in technology of water use
- Shelter and diet
✓ To ensure optimal water use, groups are scattered widely over areas to
reduce densities per unit area down
✓ Ex- Kalahari hunters maintain effective population controls through dietary,
social and cultural adjstments.
- Clothing- reduce heat load by providing insulation and promoting heat loss
ADAPTATION IN HOT HUMID CLIMATE
Ordinarily body rids heat by sweating. But in humid heat, air around prevent evaporation of
sweat to some extent and overheating may result. Following are the adaptations-
▪ In order to maintain a high evaporative cooling rate in humid environment, its
necessary to maintain higher skin blood flow. Therefore circulatory adaptation to
support higher skin blood flow with minimal circulatory strain.
▪ Another difference is more efficient use of skin as an evaporating surface. It

increases sweating in the limbs than other parts. As wet body surface area increases,
more evaporation takes place.
▪ Perspiration at early stage
▪ Darkly pigmented skin colour
▪ Excessive salt loss
▪ Concentrated urine and dry faeces
▪ Wide nose- warming of the air in nasal passage not desirable
Adaptation to High Altitude
Approximately 10 million people live permanently at heights 3600m-4000m. Life at high

altitudes imposes a complex ecological stress of low barometric pressure (which acts by
lowering the oxygen and carbon- dioxide pressure in the inspired air), cold , low moisture
(humidity) content of the air, wind, intense solar radiation and reduced nutritional base. In
addition, the rough terrain imposes higher muscular activity. Of these, hypoxia exerts
greater degree of stress on physiological functions and is not easily modified by cultural
behavioural practices or responses.
Hypoxia results from a decrease in partial pressure of oxygen in atmosphere
proportionally to increase in the attitude. This has the following effect on our body:
✓ Leads to reduction in O2 Heamoglobin saturation. It interferes with the oxygen
acquisition at the cardiopulmonary level and utilisation by the cells.
✓ Hypoxia induced anorexia and dehydration due
to increased ventilation and low humidity at high The increased ventilation leads
attitude leading to weight loss. to the ‘washing out’ of carbon
dioxide from the air passages
✓ The multifaceted effect of hypoxia also manifests
and consequently from the
through increased rates of infant mortality,
blood. This loss of carbon
miscarriage and prematurity among people dioxide alters the
residing at higher elevation. homeostatically controlled acid
✓ Decreased foetal growth due to impaired base balance of the body to a
maternal foetal oxygen transportation also more alkaline level termed
results into birth of low birth weight babies. ‘alkalosis’. This inhibit the
stimulus for increased
Thus, acclimatisation to high attitude hypoxia is a
ventilation, which is
complex phenomenon that develops through the counteracted by excretion of
modification and synchronized interdependence of the alkaline urine (bicarbonate
respiratory, circulatory and cardio vascular system to ions) by kidney thereby shifts
improve oxygen delivery and utilisation. pH of blood to normal level.
Problems at high altitude (when first exposed)

- Experience symptomatic discomfort
- Reduced work capacity
- Accelerated breathing
- Higher arterial pressure
- All these changes are induced by hypoxia.
The various mechanisms include:

Immediate Responses:
(1) The immediate response to lack of oxygen (hypoxia) is an increase in the volume of air
respired per minute. This is brought about by rapid and deeper respirations.
(2) There is augmented heart rate and cardiac output (Heart rate reduces to normal sea
level followed by reduced cardiac output on acclimatization)
(3) Further Exposure to hypoxia favors increase in red blood cell and consequently
hemoglobin concentration, enhancing oxygen carrying capacity of blood. There is
linear relation between hemoglobin (Hb) and barometric pressure. Upto 3500m it rises
steeply. Augmented viscosity accompanying polycythemia contributes to increased
pulmonary arterial pressure. This enhances effective blood gas interfacial area of
alveoli and diffusing capacity of lung which permit effective arterial blood
oxygenation.
(4) At 4500m acclimatisation takes place in approximately10 days.
(5) Clothing, shelter, and heating arrangements are generally effective in protecting
against extreme cold climate of high altitude.
Adaptation in Highlanders:
(1) Increase in number of capillaries: the PO2 of O2 is as such less. So increase in number
of capillaries will shorten the distance of travel.
(2) Increase in pulmonary ventilation: This is achieved by
(1) by increase in lung volume (leading to large chest) (Increased pulmonary arterial
pressure is associated with right ventricular hypertrophy indicating increased
workload characteristic of native population)
(2) by high residual lung volume.
This is a developmental adjustment during childhood by increase in number of alveoli
and surface area. The earlier the age or the longer the duration of stay at high altitude,
the greater the environmental influence on body dimensions and respiratory
functions.
The altitude natives Anedean Indians have larger chests and greater lung capacity as well
as more surface areas in the capillaries of lungs which facilitate the transfer of oxygen to
the blood.
The Spitians who inhabit high altitudes in the North West Himalayas showed large chest
size in relation to stature indicating developmental adaptation to low oxygen pressure of
high altitude.
The larger chest circumference of the Bods of Ladakh as compared to lowland Indians also
suggests a structural response to the greater lung function capacity and adaptation to high
altitude hypoxia (Kapoor & Kapoor, 2005).
(3) Polycythaemia: Developmental response during neonatal life due to stimulation of
bone narrow. Increase in RBC and reduction in Plasma → more oxygen being carried
(4) Increase work capacity due to efficient use of O2 (Athletes who are well trained are
also found to be equally able)
(5) Increase adult work capacity in children born in high altitude.
▪ Genetic factor
▪ Vigorous life in pursuit of subsistence
▪ High carbohydrate diet.
(6) Effect on reproduction:
▪ Low birth weight babies → so that enough 02 given without affecting mother
▪ High postnatal deaths
▪ Growth rate and development of children slow due to more demand from chest &
bone narrow
▪ Maturation also delayed till 16 years.
Pathological response
High altitude hypoxia elicit direct and indirect responses, some of them can cause mild to
severe malformation, eventually becoming deleterious to organism. Monge disease or
Mountain sickness is a complex pathophysiological condition that occur when normally
acclimatised individual lose their ability to adapt to altitude as a consequence of anoxia
and alkalosis. Symptoms include nausea, vomiting, headache, insomnia, acceleration of
heart rate, deterioration of neuromuscular co-ordination, diminished auditory perception,
diminution of visual activity and fatigue.
Also among them there is Loss of Normal stimulation of breathing → reduction in 02
pressure in alveoli and blood → To compensate → polycythaemia
Solution – Bleed the person every 2-3 weeks or leave the high altitude zone.
Cold Climate responses
Physiological responses:
Human physiological responses to cold combine factors that increase heat retention with
those that enhance heat production.
Increase retention:
▪ On exposure to cold stress vasoconstriction limits the flow of warm blood from core
to the skin thereby lowering the skin temperature. Consequently reduction of
temperature gradient between the skin surface and environment reduces the rate of
heat loss.
▪ If the vasoconstriction is prolonged then it can casue frostbite. This is prevented
among the acclimatized individuals by Lewis hunting phenomenon: when prolonged
constriction → body reacts by dilating. It alternates between Vasoconstriction and
vasodilation to reduce risks of both condition (cold and frostbite) .
▪ The reduction in heat conductance of the blood is also caused by deviation of the
blood in the extremities from superficial vein to the deep veins. The countercurrent
heat exchange between arteries and vein lower the heat conductance to the
periphery.
▪ In addition, subcutaneous fat layer provides an insulator layer throughout the body.
▪ Body size and proportions are also important in regulating body temperature. In
general, within a species, body size increase with the distance from the equator.
(Bergman rule and Allen’s Rule)
Increase heat production
▪ When vasoregulatory mechanisms are not sufficient to counteract heat loss, the
organism adjusts by increasing the rate of heat production.
▪ Shivering augments the thermeogenesis of the muscle mass and the temperature of
muscle is raised to approach that of the core, thus eliminating the temperature
gradient heat loss
Himalayan population of India
▪ shivering also increase the metabolic rate to
wear several layers of cloth to
two three times the basal value which
combat cold, but extremities
consequently release energy in the form of
remain exposed to cold stress.
heat. Shivering can provide about 3 times the
However, they are characterised
resting heat production. It is induced by reflex
by elevated resting metabolic
stimulation of hypothalamic centre by cold
rate and high level of blood flow
receptors in response to fall in skin
to the extremity to maintain
temperature
warm surface temperature
▪ Large amounts of heat can be produced by
during local exposure to cold
voluntary exercise but is limited by physical
fitness and availability of food. Eskimos have

learned to run for long periods behind their
sledges at a rate sufficient to keep them warm
but not to exhaust them, and their fitness
measured by standard tests is higher as
compared to Canadian Whites (Shepherds).
▪ In general, people exposed to chronic cold
maintain higher metabolic rate than those living
in warmer climates. The Eskimo
(Inuit) living in the Arctic maintain
rates between 13-45% higher that
observed in non-Inuit.
Cultural adaptation
▪ Insulating clothing, housing and fires
▪ Eskimos occupy the northwestern
coast of North America and across
the Bering Strait into Asia. They have well insulated housing known as ‘Igloo’. Their
wall made of whole rib rafters are covered with a double layer of seal skin attired with
moss.
▪ They place the source of heat usually an oil, blubber or coal lamp at a lower level than
the main floor; where by cold air is warmed before it reaches the area where people
live.
Cairbou or Reindeer
▪ The housing structure permits trapping of air which in turn further provides insulation.
Such an efficient heat exchange system maintains between 10 oC to 21oC for coastal
Eskimos despite subzero environmental temperature.
▪ Their clothing is made of caribou which provides higher insulation as compared to seal
skin.
▪ Activity pattern: Eskimos spend roughly 1-4 hours per day outdoors in winter, 5-9
hours in summer.
▪ Traditionally they have the highest animal protein and fat diet than any other human
population. Such a diet, necessitated by the available resources base, served to
maintain the high metabolic rates required by exposures to chronic cold.
▪ The total food energy intake in the Arctic is high relative to that in the tropics
▪ Drinking alcohol also help in warming body (however its temporary, infact it may lead
to loss of heat leading to death from hypothermia)
▪ Sleeping in family groups also minimizes heat loss eg: intuits sleep in groups and
assume curled up position
What I have explained above is general adaptive mechanism to cold. Cold stress varies in different
environment, namely- ARTIC REGION, COLD DESERT AND HIGH ALTITUDE. Now lets understand
Adaptation to different types of cold stress:
Human thermoregulatory adaptations to chronic cold exposure are more modest and lees
understood than adaptation to chronic heat. Chronic heat exposure induces fairly uniform
pattern of thermoregulatory adjustments, cold exposure induces 3 different patterns of
adaptations.
(1) Habituation- blunted physiological responses during cold exposure – blunted shivering
and blunted cutaneous vasoconstriction
(2) Metabolic adaptation- enhanced thermogenic responses to cold- shivering and Non
shivering
(3) Insulative adaption – enhanced body heat conservation during cold exposure –
enhanced cutaneous vasoconstriction, improve muscle blood flow, redistributes
towards the subcutaneous shell
Cold in Desert
▪ Central Australian Aborigines (also Bushman of
Kalahari Desert ) do not wear clothing except for
genital covering. The degree of cold exposure in
sleeping microenvironment is below the
thermo- neutral temperature (air temperatures
about 0°C and radiant temperatures -45°C).
Despite this cold stress they sleep naked
comfortably without shivering, whereas the
European controls, studied under the same conditions shivered continuously and were
unable to sleep. The Aborigines were able to endure greater fall of skin temperature
than the Europeans. The Bushmen of the Kalahari and the Australian Aborigines sleep
in extremely cold conditions with single covering and a small fire as protection.
▪ The heat against the cold stress is provided by sleeping fires. The heat made up of
grass and boughs are placed in a half-circle as wind breakers
▪ They also experience continuous vasoconstriction throughout the night which
prevents them from excessive internal heat loss with no threat of frostbite.
▪ They sleep in a group of three or four in families or in single sex groups.
Eskimos (Inuits)
▪ the Inuit (Eskimo) living in Arctic maintain metabolic rates between 13-45% higher
than non-Inuit subject. They have highest animal protein and fat diet than any other
population in the world, which is required for maintaining high BMR.
▪ Inuit experience intermittent periods of vasoconstriction and vasodilatation. This
compromise provides periodic warmth to the skin that help prevent frostbite at the
same time. Because vasodilatation is intermittent, energy loss is restricted with more
heat retained at the body’s core.
▪ They live in Igloo and their clothing is made of caribou which provides higher insulation
as compared to seal skin.
▪ Although Eskimo wear snowshoes and short skin mittens at times, during their daily
activities such as fishing, their hands and feets are continuously subject to cold stress.
Highlanders adaptation to cold

▪ The highland Quenchua population from the Peruvian Andes and other mountain
areas of South America are exposed to a variety of stresses including hypoxia cold, low
humidity and high levels of solar radiations.
▪ Thus, interpretation of cold adaptation of the highland population requires a synergic
interpretation of all these stresses.
▪ The success of the Quenchua population in preventing severe body cold stress reflects
the effectiveness of their technological adaptations, which includes housing, bedding
and clothing. The housing of the highland natives differs with the variation in altitude
and subsistence pattern. Population living below 4000m has mixed economy owing to
individual or community ownship of land.
▪ They have permanent houses built of Abode which maintain the indoor temperature
more than 10oC above the outdoor temperature. On the other hand, housing at
elevation above 4300m are temporary is a consequence of pastoral economy requiring
high mobility. However, these houses constructed of piled stones and roofed with
straw have inadequate insulative effectiveness with the average indoor-outdoor
differential temperature of 3.7oC.
▪ They sleep within the woolen sleeping bags providing adequate protection against
cold stress. Clothing results in 4oC increase in temperature of the skin under clothing.
Epidemiological Anthropology
Epidemiology is often defined as the study, distribution and determinants of disease and
injuries in human population. Epidemiological anthropology elucidates etiological factors
involved in a disease incidence; and emphasis on population variation in incidence and
occurrence.
Epidemiological Anthropology confers to the determination, manifestation and distribution
of certain diseases and disorders in human communities spread all over the globe. The
spectrum of disease causing factors ranges from genetic to environment. Socio-cultural
background also exhibit influential role as human settlement pattern enhance the spread of
diseases. The biotic and abiotic components of the environment contribute to ecological
aspects of diseases. The epidemiological aspects consider two kinds of diseases namely,
infectious and non-infectious. Malnutrition is another contributory factor for the affliction of
certain diseases.
Significance of Epidemiological anthropology:
The rise in chronic, non-infectious diseases as important cause of morbidity and mortality has
increased the interest in epidemiology of diseases. In addition it’s also understood that
infectious diseases can also be controlled by clear understanding of social and cultural
factors. So etiological models have been focusing increasingly on psychological, biological and
socio-cultural characters of hosts. Thus epidemiological anthropology research has revealed
that any human diseases can be described as a “causal web” including-
▪ Exogenous factors- biotic and non-biotic
▪ Endogenous (genetic) factors
▪ Demographic
▪ Behaviour – Governed by social, cultural And psychological factors.
Human growth occurs along a genetically destined trajectory, but is influenced by
environmental factors consequently affecting its longevity and health status. Consequently
diseases exhibit the whole spectrum of causation, ranging from hereditary factors which play
predominant role, to the environment. In many instances both factors have to be taken into
account. We need to consider not only man’s physical environment but also his social,
cultural and psychological circumstances.
Infectious disease
Infectious diseases are illnesses caused by viruses fugus bacteria or other parasite that people
spread to one another through contact with contaminated surfaces, bodily fluids, blood
products, insect bites, or through the air. There are many examples of communicable diseases.
Some examples of the infectious disease include HIV, hepatitis A, B and C, measles,
salmonella, measles and blood-borne illnesses. Most common forms of spread include fecal-
oral, food, sexual intercourse, insect bites, contact with contaminated fomites,
droplets, or skin contact.
There exist a competitive interaction between man and environment. Man has been able to
control his nearby environment or at least mitigate its worst effects by various adaptive
mechanisms. On one hand, this struggle may be against unalterable and passive opponent,
e.g. physical and climatic factors (temperature or atmospheric pressure) and on the other
hand, biological environment which is in itself capable of adaptive responses. Therefore, in
the context of infectious diseases, epidemiology can be revealed in two ways:
▪ Physical environment: It is a direct and immediate source of ill health. There is a clear
geographical distribution of infectious disease manifested as a consequence of
physical environment.
▪ Biotic component of the environment harbours pathogenic organisms (viruses,
bacteria, protozoa, fungi) or their carriers- animals as well as insects.
The infectious diseases have emerged from man’s contact with other living organisms and
represent phases of ecological conflict which have not been yet entirely resolved in man’s
favour. The geographical background is the prime single factor governing the abundance of
specific type of parasites and pathogens in a region. Micro-organisms may be water-borne,
air –borne, or carried by insects and other animals. The host-parasitic relation often takes a
complex course depending on the number of stages and factors involved in a life cycle of
parasite– vector, intermediate host and one or more reservoirs.
Analysis of the locality eventually reveals that ecological relationships are strongly influenced
by physical features such as wind, rainwater, drainage, temperature and humidity. The
pathogen itself may have limited environmental tolerance. The vector usually requires
specific conditions for breeding, e.g. ticks or fleas may need a dry climate. The carrier may
have a restricted habitat, e.g., tree-living squirrels in the Malayan rain forest. The female
Anopheles utilise water bodies for breeding. Site specific rainfall, soil type and its water-
retaining properties determine persistence of water pools. The tsetse fly, vector of African
sleeping sickness, requires a relatively dense vegetational cover. The geographical
distribution of many diseases is similar to that of their intermediate hosts and vectors.
Schistosomiasis is common among reverie populations of warm climates as the bladder-
worm needs a particular snail during one of its developmental stage. Rickettsial diseases, e.g.
Rocky Mountain spotted fever, are linked with ticks found chiefly in North America, Bengal,
and North Africa. The Asiatic form, scrub typhus, carried by mites, occurs in Japan, Formosa,
and Oceania; the typhus group of Europe and central Asia is linked with fleas and lice.
Brucellosis is transmitted through contaminated and untreated milk and milk products, and
by direct contact with infected animals and hence is geographically related to cattle herds as
the main reservoir.
The ecological relations are complex. A relatively few out of the thousands kinds of
human parasites characterise any given locality. Thus, the ecological relations of most micro-
organism disease will be unraveled only by specific regional analysis. For instance, Yaws, a
microbial disease has strong relationship to climate. 80 per cent of the yaws affected areas
have the 800 F mean annual isotherms. This disease is endemic where the annual rainfall
ranges from 50 to 70 inches. The disease occurs therefore mostly between the north and
south 40th parallels.
Somaliland, a semi-desert country consists of thorn scrub country and has dry climate. Hence,
cataract and eye infections are causally associated with the flying sand, sun-glare as well as
the flies which breed freely due to the dry climate. The climate also favours the existence of
soft ticks which causes relapsing fever. There is moderate incidence of Madura foot caused
by inoculation of the fungal spores into the skin by the thorns. The intense dryness and
frequent sand storms encourage sore throats, which the Somalis have been led to treat by
snipping off the uvula. Thus sand, dryness, and glare are the prime physical factors that can
be identified in this ecological complex.
Another example may be drawn from the Arctic. Here, despite the enormous number and
variety of mosquitoes and other arthropods, none are known to transmit infectious disease.
But throughout the North American Arctic, dogs, which still provide the chief means of winter
transport, serve as a reservoir in transmission of numerous infections among humans
including salmonellae, meat and fish tape-worm, and rabies. The seasonal incidence of these
diseases is due to unsanitary disposal of waste in the vicinity of dwellings which render
pathogens innocuous in the frozen state but are released with the spring thaw.
The characteristic housing structure and settlements pattern of man may introduce favorable
factors to the spread of particular diseases. Human settlement may require deforestation
which may provide conditions favourable for the propagation of infectious diseases.
Deforestation of the hills of Ceylon led to frequent pool formation during dry spell and
successively to mosquito-breeding. In Malaya certain rats capable of carrying tick disease are
very rare in the natural forest but after deforestation they occur in great numbers.
BIOLOGICAL RESPONSES
There are two fold responses to infectious diseases: immediate which depend on the
adaptive flexibility of the individual and long-term responses which become evident after a
long period but is action-specific.
Immediate responses are the physiological processes which counteract the effects of the
invading organisms evident by symptoms and signs of the disease such as inflammation, pain,
fever, etc. Prolonged exposure to infection may result into immunological responses. The
proteins or polysaccharides of the invading organisms act as antigens and stimulate the
production of antibodies. Once such antibodies are formed they may persist in the
body or may rapidly be reformed during second infection.
If a disease is wide spread or severe in nature then it may act as an efficient selective agent.
Individuals who are able to combat the disease will survive while others are eliminated. Such
a resistance may be due to increased physiological adaptability, enhanced immune response
or both. Prior exposure to such diseases ameliorates its severity in successive generations.
Otherwise, the population would experience high morbidity and mortality rate. Many of the
infectious diseases occur during the pre-reproductive and reproductive phases of life,
thereby increasing their selective significance.
Example of Genetically determined disease - lactase deficiency, which is caused by a

recessive gene with high penetrance. The symptoms of lactase deficiency become
apparent when an individual consumes milk-based products. In older children (aged 6–7
years and above) and adults the consumption of milk results in abdominal distension,
flatulence, abdominal pain or discomfort, and occasionally diarrhoea. It is a product not
of genetics alone, but of an interaction between environmental (actually eco-cultural)
factors and genetics. Once again, because of the genetic basis of lactase intolerance, its
incidence varies geographically. People of Chinese decent do indeed appear to have one
of the highest levels of lactase intolerance
NON-INFECTIOUS DISEASES/NON-COMMUNICABLE DISEASES

Noncommunicable diseases (NCDs), also known as chronic diseases, tend to be of long
duration and are the result of a combination of genetic, physiological, environmental and
behaviours factors. The main types of NCDs are cardiovascular diseases (like heart attacks
and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary
disease and asthma) and diabetes.
Key facts
• Noncommunicable diseases (NCDs) kill 41 million people each year, equivalent to
71% of all deaths globally.
• Each year, 15 million people die from a NCD between the ages of 30 and 69 years;
over 85% of these "premature" deaths occur in low- and middle-income
countries.
• Cardiovascular diseases account for most NCD deaths, or 17.9 million people
annually, followed by cancers (9.0 million), respiratory diseases (3.9million), and
diabetes (1.6 million).
• These 4 groups of diseases account for over 80% of all premature NCD deaths.
• Tobacco use, physical inactivity, the harmful use of alcohol and unhealthy diets
all increase the risk of dying from a NCD.
• Detection, screening and treatment of NCDs, as well as palliative care, are key
components of the response to NCDs.
• NCDs disproportionately affect people in low- and middle-income countries where
more than three quarters of global NCD deaths – 32million – occur.
Who is at risk of such diseases?

▪ People of all age groups, regions and countries are affected by NCDs.
▪ These conditions are often associated with older age groups, but evidence shows that
15 million of all deaths attributed to NCDs occur between the ages of 30 and 69 years.
Of these "premature" deaths, over 85% are estimated to occur in low- and middle-
income countries.
▪ Children, adults and the elderly are all vulnerable to the risk factors contributing to
NCDs, whether from unhealthy diets, physical inactivity, exposure to tobacco smoke
or the harmful use of alcohol.
▪ These diseases are driven by forces that include rapid unplanned urbanization,
globalization of unhealthy lifestyles and population ageing.
▪ Unhealthy diets and a lack of physical activity may show up in people as raised blood
pressure, increased blood glucose, elevated blood lipids and obesity. These are called
metabolic risk factors that can lead to cardiovascular disease, the leading NCD in
terms of premature deaths.
Regional variation of Non-infectious Diseases:

In non-infectious disease, the whole complex of environmental factors and biological
responses (inborn and acquired) must be considered to account for regional variation.
▪ The fact that Negroes are more susceptible to frostbite than Eskimos or North
American Indians may be attributed to both lack of acclimatisation and genetic
susceptibility.
▪ Many diseases have been accorded a ‘racial pathology’ but the distribution was
entirely related to environmental peculiarities.
▪ Primary cancer of the liver, common among Africans seems to be a sequel of the
widely prevalent liver cirrhosis. It is caused by consumption of diet chronically low in
animal protein and rich in carbohydrate since infancy.
▪ Striking ‘racial’ differences in the incidence of coronary disease is associated with diets
high in fat.
▪ Many diseases and malformations are known to have genetic basis; the afflicted
individual is usually homozygous for the recessive gene, though dominant genes are
also involved in some conditions. Genetic diseases are very rare. However, certain
populations have high frequency of such diseases. Thalassemia and sickle- cell anemia
are haemoglobin variants caused by mutation in hemoglobin gene.
▪ Haemolytic disease of the new-born due to rhesus incompatibility is characteristic of
European but not of most Mongoloid or Amerindian populations, since they are devoid
of Rh-negative individuals.
▪ There is an increased risk of duodenal ulcers in individuals of blood group O and
individuals with blood group A are more prone to stomach cancer than others.
Risk factors
Modifiable behavioural risk factors
Modifiable behaviours, such as tobacco use, physical inactivity, unhealthy diet and the
harmful use of alcohol, all increase the risk of NCDs.
• Tobacco accounts for over 7.2 million deaths every year (including from the effects of
exposure to second-hand smoke), and is projected to increase markedly over the
coming years.
• 4.1 million annual deaths have been attributed to excess salt/sodium intake.
• More than half of the 3.3 million annual deaths attributable to alcohol use are from
NCDs, including cancer.
• 1.6 million deaths annually can be attributed to insufficient physical activity.
Metabolic risk factors
Metabolic risk factors contribute to four key metabolic changes that increase the risk of NCDs:
• raised blood pressure
• overweight/obesity
• hyperglycemia (high blood glucose levels)
and
• hyperlipidemia (high levels of fat in the
blood).
In terms of attributable deaths, the leading
metabolic risk factor globally is elevated
blood pressure (to which 19% of global
deaths are attributed), followed by
overweight and obesity and raised blood glucose.
What are the socioeconomic impacts of NCDs?

Poverty is closely linked with NCDs. The rapid rise in NCDs is predicted to impede poverty
reduction initiatives in low-income countries, particularly by increasing household costs
associated with health care. Vulnerable and socially disadvantaged people get sicker and die
sooner than people of higher social positions, especially because they are at greater risk of
being exposed to harmful products, such as tobacco, or unhealthy dietary practices, and have
limited access to health services. Further, In low-resource settings, health-care costs for NCDs
quickly drain household resources. The exorbitant costs of NCDs, including often lengthy and
expensive treatment and loss of breadwinners, force millions of people into poverty annually
and stifle development.
Prevention and control of NCDs

▪ An important way to control NCDs is to focus on reducing the risk factors associated
with these diseases.
▪ Monitoring progress and trends of NCDs and their risk is important for guiding
government/ healthcare policy and priorities.
▪ To lessen the impact of NCDs on individuals and society, a comprehensive approach is
needed requiring all sectors, including health, finance, transport, education,
agriculture, planning and others, to collaborate to reduce the risks associated with
NCDs, and promote interventions to prevent and control them.
▪ Management of NCDs includes detecting, screening and treating these diseases, and
providing access to palliative care for people in need.
▪ High impact essential NCD interventions can be delivered through a primary health
care approach to strengthen early detection and timely treatment. Evidence shows
such interventions are excellent economic investments because, if provided early to
patients, they can reduce the need for more expensive treatment.
Malnutrition related diseases

The nutritional status of individuals and population span a broad range from extremes of
deficiency to excess. Malnutrition refers to cellular imbalance between the supply of
nutrients and energy and the body’s demand for them to ensure growth, maintenance and
specific function.
▪ It is more prevalent among developing nations, primarily those undergoing the
urbanisation.
▪ Severe malnutrition is frequent during war.
▪ Protein-caloric malnutrition is most common form of undernutrition. It includes
Kwashiorkor and Marasmus.
Kwashiorkor
▪ Kwashiorkor, a Ghanaian word means ‘second-child disease.”
▪ Kwashiorkor is usually associated with the period immediately following weaning,
which often takes place after the birth of second child.
▪ In many parts of the world, especially in the tropics, the child is resorted from mother’s
milk to a diet adequate in carbohydrates and has insufficient protein.
▪ The food usually comprises a starchy gruel made from yams, taro, corn, rice or millet.
▪ Animal protein is scarce and if available, is expensive.
▪ Thus the child may receive enough food to satisfy hunger, but does not receive the
proteins vital for normal health, growth and development.
▪ Characteristic symptoms of Kwashiorkor:
✓ Oedema or fluid retention in the feet, lower legs and seldom in other parts of the
body.
✓ Growth and psychomotor development is retarded.
✓ Severe wasting of muscle and adipose tissue can be
depicted from the thinness of upper arms.
✓ The child is unable to balance its head when pulled from a
lying to sitting position.
✓ Extra vascular fluid retention distend the abdomen
(potbelly).
✓ The child is apathetic, miserable, withdrawn and
indifferent to its environment.
✓ Hair discolouration, dry peeling skin with sores which fail
to heal
✓ Fatty liver
Marasmus
▪ Marasmus is derived from Greek word which means
withering or wasting.
▪ It results from a diet low in both protein and calories.
▪ It is more frequent among children younger than 5
years, but usually soon after weaning.
▪ Symptoms of Marasmus:
✓ extreme growth retardation,
✓ wasting of muscles and subcutaneous fat,
✓ diarrhea, and severe anemia.
✓ Since vital nutrients are absent during the period
critical for brain growth, mental retardation often
occurs.
✓ It results into death.
Kwashiorkor and Marasmus represent extreme examples of

malnutrition and growth retardation. Lack of specific nutrients in the diet may lead to less
severe form of malnutrition and other health risks.
DISTRIBUTION OF DEFICIENCY DISEASES

American Geographical Society has provided an eminent image of the distribution of the
nutritional deficiency diseases in different parts of the world.
▪ Protein deficiency is predominantly found in the South American, African, Indian
and South-East Asian populations.
▪ Mineral deficiencies predominate in Northern American continent, upper part of
South-East Asian countries and some African populations.
▪ The incidence of multi-vitamin deficiencies is rampant in Africa, Middle-East and
some islands of Pacific Ocean.
Excessive amounts of nutrients are also hazardous to health. For example, excessive amounts
of vitamin D lead to hypercalcemia, characterised by high levels of calcium in the blood. It
results into sluggish nerve reflexes, weak muscles and unnatural calcification of soft tissue.
Obesity refers to excess fat accumulation which may unfavourably affect health of an
individual leading to reduced life expectancy and increased health problems. An adult with
BMI > 30kg/m2 is said to be obese while a child is considered obese when his or her body
weight is 20 per cent greater than that for his sex and age-specific weight-for-height standard.
Obese children mature earlier.
EFFECTS OF NUTRITIONAL STRESS
Prolonged nutritional stress, specifically during infancy and preschool age is a major, although
indirect factor leading to infant and early childhood mortality. For instance, diarrhea usually
occurs during weaning period due to combined effect of infection and low food intake.
▪ Decreased Resistance to Infection: The resistance to infections in human is adversely
affected by malnutrition.
o The skin and mucosa do not provide effective physical barriers against infection.
o Cell mediated immunity responses against bacterial infection get reduced in
severely malnourished individuals.
o The thymus gland and thymus dependent lymphoid tissues are atrophied.
o Humoral antibodies: Circulating immunoglobulin levels are usually normal or
elevated in malnourished subjects due to frequent infection. As the secretary
IgA is generally reduced, recovery from infections is delayed.
▪ Under nutrition and Learning Abilities: The period of active growth of human brain
extends from 30th week of gestation to the end of the second year of life.
Undernutrition during this period, appears to adversely affect the development of
brain.
o In recent years, intensive investigations have focused on the relationship of
nutritional deprivation in early life and subsequent development of brain and
cognitive abilities.
o Evidences have been derived either from the association of malnutrition in
early infancy with poor mental performance later in childhood or with the
retarded brain growth or size as observed in autopsy specimens.
o In a study, 45 malnourished infants and age matched controls from similar
socio- cultural background were investigated after a period of 4-6 years. The
previously malnourished group showed poor inter-sensory organisation for
recognition of geometric forms. However, the differences observed by
Wechsler primary and preschool Scale of Intelligence in the I.Q. were minimal.
o A recent study from Brazil on nineteen marasmic children aged less than six
months, successfully treated for malnutrition, did not show significant lag in
their IQ compared with their siblings and peers. Thus, malnutrition does not
affect intelligence or is cause of mental retardation.
The Garos being basically rice eaters take curry of pulses, vegetables, fish, meat of any animal and
egg along with rice. They relish boiled food and rarely fry their items in oil or take spicy food. Both
the habits tend to check the ulcer or gastric related problems. The Garos also consume a large
quantity of alkali (water extracted from plant-ash) in their diet. This practice most possibly
neutralise any acid formation in stomach, and thereby automatically checks any ulcer formation.
The low prevalence of the degenerative diseases (e.g., ulcer) among the Garos perhaps could be
due to the dietary habits of the people
Nutritional rickets refers to faulty or inadequate bone growth and it has proved a
particular problem among Asian immigrants in Britain. Black (1989) describes a number
of factors contributing to rickets in Asian children: inadequate exposure to sunlight
(possibly as a result of the custom of covering the arms and legs); strict vegetarian diet
(especially for Hindus); use of cows’ milk for infant feeding (having little vitamin D);
maternal deficiency of vitamin D; and a poor uptake of vitamin preparations.
Culture-bound Syndromes
‘Culture-bound syndromes’ as the name implies are symptoms unique to a particular

cultural group or community. Let us take into consideration a few examples which reveal
the presence of culture- bound syndromes in human societies across the globe and these
have been dealt exhaustively by MacLachlan in his book ‘Culture and Health A Critical
Perspective Towards Global Health’ published in 2006.
▪ Koro is a condition where people believe that their sexual organs are shrinking. It
is believed to be a fatal condition with a neurophysiological basis shaped by
different cultural contexts and occurs mostly in southern China and south-east;
▪ Latah another syndrome found in Malaysia and Indonesia is characterised by an
exaggerated startle response to a surprising event and it may develop into a life-
long condition regardless of whether its onset is abrupt or gradual. It is not a
neurophysiological condition but the result of the social function within a culture;
▪ Bebainan is a culture bound syndrome found in Bali. It is a condition where a
person may suddenly break into tears and attempt to run away from their present
situation and finally collapse under exhaustion. Subsequently the person with
these symptoms is unable to recall any of these events.
▪ Tabacazo a syndrome found in Chile is characterised by agitation, despair, and
aggression in association with a loss of consciousness.
▪ It is pertinent to mention here that certain culture bound syndromes have come
into being under the influence of the western culture or people of European origin
and these have gradually percolated through acculturation to other parts of the
world including India. To name a few, mention must be made of Anorexia Nervosa
where sufferers develop a distorted perception of their own body shape and hence
starve themselves of food; Type A behaviour characterised by aggressive and
competitive behaviour towards others as struggle continues to achieve goals
within the stipulated time period; and obesity a condition where excess weight is
gained due to eating beyond the requirements of the bodily functions and thereby
results in physical discomfort and depression.
Growth and development

Growth and development are processes intrinsic to all
living organisms. Since both these processes proceed
hand in hand, one may tend to consider them a single
biological phenomenon. However, these are not
identical but qualitatively different processes. Growth
broadly refers to increase in overall size of the body
and specific body parts. Development commonly
denotes increase in complexity and functional ability.
The process of growth begins with the fertilized ovum and continues up to adulthood when
an individual attains his/her adult size, shape and maturity. Thus, growth and development
(including maturation) are fundamental processes that shape an individual's progression
from birth to adulthood. Some biological changes continue even beyond adult life till death
of an individual. The whole process of human growth passes through various phases namely:
prenatal phase, infancy, childhood, adolescence, adulthood and senescence.
Though scientific investigations of human growth probably started sometime in the 18th
century, but the idea of growth perhaps goes back to prehistoric or early historic period
where rock paintings and sculptures showed humans in different ages and sex. In the
subsequent 19th century studies on human growth continued under motivation from
political, racial, medical and scientific considerations. The 20th century witnessed significant
advancements in the methodologies, treatment and interpretation of growth data and
several long duration interdisciplinary longitudinal growth studies were carried out that
provided baseline information about child growth.
The anthropological approach to human growth and development integrates research
about people from all parts of the world, from
past as well as contemporary cultures. The study
of growth and development is very important in
biology as it also throws light on the mechanism of
evolution. The complex process of human growth
and development is mainly regulated in
predetermined trajectories by the genetic
potential of an individual. Though growth in body
size is limited by hereditary factors, it is also
influenced by extraneous factors such as nutrition,
ethnicity, environment, climatic conditions,
disease, etc. An individual's growth may slow down
during childhood under the influence of
environmental insults such as disease and poor nutrition. However, upon

improvement in conditions, one is able to return to or nearly approach one's regular course
of growth. Thus, we can also say that growth, development and maturation are integrated
and these are largely maintained by a constant interaction between genes, hormones,
nutrients and some other factors.
To study the process of growth we make observations through measurements, which may
be linear (e.g., height, sitting height, head breadth), circumferential (e.g., head
circumference, mid-upper arm circumference) or pondreal (e.g., weight), These
measurements can be plotted in the form of graphs to obtain two types of curves namely the
distance curve and the velocity curve. The former indicates the overall growth at some point
of time while the latter denotes the amount gained in a unit of time or the rate of growth.
There are several methods of studying human growth, such as cross-sectional (in which
the individuals are measured only once), longitudinal (wherein individuals are measured
more than once), and mixed longitudinal (wherein some individuals get included and some
leave an ongoing longitudinal study).
In this chapter we will focus on the fundamentals of human growth and development,
including the basic concepts, stages of growth, secular trends and the factors affecting growth
and development and methods and techniques of studying growth.
Basic concepts:
Growth: Growth is defined as the Net increase in the size of the mass of tissues and it includes
process multiplication of cells and increase in intra cellular substances. For example when we
talk of children growing, it means that they are becoming taller and heavier and their organs
are increasing in size.
Indicators of Growth:
It involves:
(1) Weight for height
✓ Process of DNA replication
(2) Weight for age
✓ Increase in cell size
(3) Height for age
✓ Increase in protein and DNA ratio
Growth rejects quantity: thus growth is measured in terms of height, weight chest
circumference, head, midarm circumference and skin fold thickness. Assessment of physical
growth is done by body measurement and velocity of growth.
Development: Development signifies a broader concept. The differentiation and

specialization of various tissues and body parts. Development also means increased
complexity in thought, behaviour, skill, or even function. It indicates acquisition of variety of
skills for optimum functioning of individuals—It specifies maturation of functions.
In behavioural context, it relates to the development of competence in a variety of

interrelated domains as the child adjust to his or her cultural milieu- the amalgam of symbols,
values and behaviors that characterize a population. It also denotes acquisition and
refinement of behaviors expected by the society.
The acquisition of skills are essential for functioning of individuals. Any delay in
development may reflect under development. Development is thus matter of quality.
Measurement of development is done by IQ.
IQ= MA MA= mental age
CA CA= Chronicle Age
Development IQ
Profound 20-40
Low 40-60
Moderate 60-80
Moral 80-100
Extraordinary 120
Genius 140
Growth and development is complex phenomenon There are 3 main aspects of Growth and
Development:
(a) Physical Development : Changes in the body, the brain, sensory capabilities are all part of
physical development. It exerts major influence on the intellect and personality.
(b) Intellectual Development: changes in the mental ability such as learning, memory,
reasoning, thinking and language.
(c)Personality and social Development: changes in the way people deal with the world,
express emotions, and so on. ie personality development; similarly development of
relationship with others.
Laws of Growth:
1. Growth and development of children is a continuous process
2. Growth pattern of every individual is unique
3. Different tissues of body grow at different rates.
Principle of Growth:
▪ Top to Bottom development : (Cephalocaudal principle)
▪ Development proceeds from head to lower part of body.
▪ Ex: An embryo head, brain and eyes develop first; by the time of Birth the head is
¼th the length of the body.
▪ Similarly infants learn to control the upper part, before the lower part of body.
▪ Inner to outer Development: (Proximodistal Principle)

▪ Central part of body to outer part.
▪ Embryonic trunk and head develop before the limbs and arms; Leg develops before
the fingers and toes.
▪ Simple to complex Development
Some gerontologists distinguish between:-

▪ Primary ageing: gradual inevitable process of bodily deterioration that begin early
in life and continues through the years.
▪ Secondary ageing: the result of disease, Abuse and disuse- factors that are often
avoidable and under peoples control.
Stage of Growth
PRE NATAL GROWTH
Prenatal growth includes embryonic and fetus stages. During embryonic stage, though the
rate of growth is slow, it gives rise to the development of different parts like head, legs, arms
and other parts. The cells are differentiated into specialized tissues, like nerves and muscles.
When this stage is completed, embryo
becomes childlike in appearance. After
fertilization, the zygote is implanted in the
uterus, where placenta is formed and the
embryo derives nutrition from maternal body
for its growth and development. The prenatal
growth and development occurs according to
genetic message of the zygote, before birth.
This growth period can be divided into 3
Figure: Prenatal growth stages
stages—
1. Germinal stage /period of Ovum:

▪ 0 to 2 weeks after fertilization
▪ Fertilization (Fallopian tube) → zygote → Blastocyst (Moves to uterus)
▪ Some cells around the edge of the blastocyst cluster on one side to form embryonic disk.
(cell mass from which baby develop)
▪ It Differentiates into 3 layers:
Ectoderm Endoderm Mesoderm
Nail, Hair, Teeth, outer skin and Digestive System, Liver, Inner layer of skin, muscle,
Sensory organs pancreas, salivary gland skeleton, excretory and
circulatory system
Figure: Germinal stage
2. Period of Embryo /embryonic stage:

▪ From 2 weeks to 8-12 weeks
▪ This stage of growth → formation of most of the organs and body parts.
▪ Sexual determination also occurs during this period.
▪ The placenta is connected to the embryo by the umbilical cord, through which is
supplies 02 and nutrients to embryo and removes waste.
▪ Placental also produces Hormone to support pregnancy.
▪ Because of rapid growth and development, this period is vulnerable to environmental
influence. Hence developmental defects occur during this stage.
3. Period of foetus/ Foetal stage

▪ From 8 to 12 weeks to birth
▪ The body parts, organs and systems which were formed during period of embryo, will
become much more developed and begin to function during the period of foetus.
▪ From about 36 weeks –the rate of growth of the foetus slows down due to the
influence of maternal uterus, whose limited space in fully occupied by that time. Hence
birth wieght and birth size in general reflect the maternal environment more than the
genotype of the child.
POSTNATAL GROWTH:
1. Neonatal and Infancy
2. Childhood
3. Puberty and Adolescence maturity
4. Senility periods
1. Neonatal and Infancy:

▪ From Birth to 3 years (Neonatal- first 4 weeks)
▪ Growth is very rapid during this period
▪ 50% of birth length and 200% of birth weight takes places during the first year of life.
Physical characteristics
Height Weight Brain development Motor control
Birth -50 cm Doubles – 5mth @ birth – 25% of adult 3 months- Neck holding.
3months- 60 cm Triples- 1year weight of Brain 4 months -Grasp object
9 months- 70 cm Quadruples – 2 years 3 months – 40%, 5 months- sit with
1 year -75 cm 5 times – 3 years 6mths – 2years- 75% of Support
2 year- 90 cm 7 times – 7years adult brain 8 - sit without Support
4 year- 100 cm 9 - Stand With Support
10 - walk with support
12-13 – Stand/ Walk
without support
18 months - runs and
feeds
▪ Physiological Functions of Infants

✓ Circulatory- 120-150 beats; physiological jaundice may be seen due to high break
down of RBCs
✓ Respiratory- Neonate- highly irregular
✓ Temperature- Neonates skin lacks a layer of immovable fat and therefore heat is
lost. Hence during first week→ New born’s body temp is not stable. Infants
regulator its body temp through activity and crying.
▪ Behavioural responses- Reflexes
✓ Infants are capable of responding to certain

stimuli in an specific way. The infants
response to a particular stimuli in the
environment is automatic and unlearned
and is called reflexes.
✓ This Helps in adapting to physical
environment
✓ Disappears after new born’s brain matures
✓ Following are some reflex- Sucking Reflex,
Rolling reflex, Moro reflex, Palmar Grasp
reflex, Babinski reflex etc.,
2. Childhood
▪ Period from 3 to 12 years
▪ Generally spans from the end of infancy to the beginning of adolescent period. It may
further be divided into early childhood, middle childhood and late childhood
▪ During this period - Both heredity and environment play role in physical growth.
▪ Heredity factors along with nutrition, state of health, socio-economic condition of
parents, psychological well being etc effect growth and development
▪ There is also population variation in growth pattern.
▪ Growth is relatively more in width than in length
▪ The-early childhood is the period of eruption of deciduous or milk teeth. The
permanent dentition also shows its beginning. The head in relation to the trunk:
continues to predominate but in lesser degree.
▪ The middle childhood period (sometimes also called juvenile period) is described
between 7 and 10 years of age-group. During this time, the linear growth of the body
takes place rapidly. The waistline becomes definable. Between 7 and 8 years a nominal
acceleration in the rate of growth occurs. Normally the changes that take place during
this period are termed juvenile growth spurt.
▪ Broadly, the late childhood begins from the pre-pubertal period and continues up to
the time of puberty. The late childhood phase of growth starts from 7 to 8 years age
group and continues till puberty (between 13 and 16 years among boys and between
12 and 15 years among girls). The secondary sexual characteristics normally appear
during this phase in both the sexes. The growth changes that occur during this stage
are referred to as the adolescent growth spurt.
3. Puberty and Adolescence.

▪ Puberty→ IT is the process that leads to sexual maturity- ie capable of reproduction.
▪ The period of life leading to reproductive maturity is called adolescence.
▪ The adolescence period extends from the time of Changes during Puberty
puberty till around 20 years.
▪ Rapid growth in height and
▪ During this period there is a marked acceleration
weight.
of growth, which is commonly known as the
▪ Changes in body proportion
adolescence growth spurt.
and shape/form
▪ The acceleration of growth at adolescence causes
▪ Voice change
many anatomical changes almost in all parts of the
▪ Increase activity of sweat
body.
and sebaceous gland.
▪ Differentiation in primary and secondary sexual
▪ Development of sexual organ
characteristics also takes place during the
▪ Reaching Mental, Intellectual
adolescence period.
and Emotional maturity.
▪ This period is marked by changes in the
▪ Development of secondary
reproductive organs, in body size and shape and in
sexual character
a variety of physiological functions.
▪ Under the influence of hormones (like testosterone and oestrogen, FSH etc.), sexual
maturation takes place during this period.
4. Maturity or Adulthood:
▪ Cessation of growth in height – as bones lose their capacity to grow
▪ This period can be further be divided into Young Adulthood and Middle adulthood
(a) Young Adulthood :
▪ Between 20-45years
▪ height is stable and then it tends to decline
▪ Peak muscular activity- 25-30 yrs; 10% loss in muscular activity between 30-60
▪ Manual dexterity- most efficient during this period
▪ Senses are sharpest and then gradually declines.
(b) Middle Adulthood:
▪ Physical functioning and health still good, but not at its peak
▪ Changes in reproductive and sexual capacities: menopause and male
climacterics occur in this stage- some experience a kind of sexual renaissance.
▪ Vision, Hearing, Taste and smell gradually deteriorates.
▪ Strength and coordination decline gradually.
▪ Physiological changes:
- Diminished ability to pump blood.
- Reduced kidney functioning
- Low enzyme in gastrointestinal tracts causing

indigestion/constipation
- Weakening of diaphragm
- In Male→ enlargement of prostrate
- Reduction in reproductive capacity.
5. Senescence:
▪ The changes which occur during the post-reproductive period and it results in
reduction in survival capacity on the part of the individual organism.
▪ Senescence and ageing are gradual process
▪ The aging time also differs from person to person and society to society, because the
environment plays an important role
▪ Generally initiated at molecular level. The process is advanced much before the
external symptoms appear.
▪ Changes:
- Sensory and psycho-motor abilities decline with age
- Visual impairment- cataract, glaucoma, blindness can occur
- Hearing loss
- Taste and Smell; reduction in taste buds, olfactory bulb has withered.
- Adjust very slowly to cold and Heat
- Strength and coordination slows down
- Reflex responses are slowed; bladder & bowel control is lost.
- Takes longer for them to assess the environment – slowed information processing
- Skin becomes paler, dryer, losses elasticity; subcutaneous fat and muscle disappear
- Hair becomes thinner, turns white and sprouts in new places
- Reduction in height → disc between the spinal vertebrae starts to atrophy
- Osteoporosis occurs
- All body system becomes more susceptible to disease.
Factors influencing Growth and Development :
1. Genetic Factor:
▪ Different characters appears at different stages of growth. There characters are
controlled by genes. For co-ordinated growth, it is essential for the different genes to
be activated at specific time period. This process requires a regulated chain reaction is
called as induction. Induction are protein by nature→ act on cell membranes → bring
changes in structure and function of cell by activating genes with in the cells.
▪ When cells differentiate (due to inducers) they release inducer substance that becomes
stimulatory for the cells of lower order. Cell differentiation can only happen when the
genes of different cells are activated at specific functional sites. Based on the function
associated with cell differentiation, gene can be classified into 2 types.
(a) Housekeeping Gene:- Synthesize proteins that are required by all the cells. These
are activated by inducers in all types of cells. Example- Proteins required for the
formation of cell membrane
(b) Luxury genes: Activated in only certain types of cells. Related with certain special
functions. Ex: cells which synthesize insulin are activated by inducers responsible
for this function
▪ The following activates are essential for the growth and development of any individual
(cell)
(a) Duplication of DNA for cell division
(b) Synthesis of mRNA (Transcription)
(c) Synthesis of protein (Translation)
All there are controlled by genes.
▪ Gene also control – metabolism of body which in turn determine Growth &
Development
▪ Homeotic gene – Control of differentiation of various organs of the body. They are
responsible to give identity to the organs and their internal development and
functional specialization.
▪ Phenotype- The pattern of morphological aspect of children depends on the
phenotype of the parents, which is passed on by the genes.
▪ Racial difference effects growth and development. Race is attributed to genetic
difference in population. Eample: It is found that Caucasoid register faster growth
while negroid and mongoloids medium and lower growth respectively.
▪ Sex of individual (which is determined by gene- XX or XY), also effects growth pattern
▪ Genetic disorder due to abnormal gene can adversely affect the growth and
development. Example: Inbreeding → higher rate of genetic disorder → higher child
and foetal losses or poorer growth (due to higher incidence of genetic disorders)
Study on genetics and growth:

▪ Identical twin sisters reach menarche an average of two months apart and non-
identical twin sisters an average of 10 months apart. The correlation coefficient
between age at menarche of mother and daughter is about 0.4.
▪ Similarly, the skeletal maturity shows a close correspondence at all ages in identical
twins
▪ The time of eruption of teeth, both deciduous and permanent and also the sequence
in which the teeth calcify and erupt, is largely determined by heredity.
2. Environmental Factors:
(a) Natural Resource – include minerals, crops, etc. Nations with better natural resources,
have better socioeconomic condition (Better GDP, Higher PCI, higher HDI) → Good
health → Satisfactory growth & development
(b) Climate:
✓ Growth is slow in summer and faster in spring.
✓ Heavy rain, floods, drought, famine → bad climate→dislocation, distress, high
incidence of infectious disease, poor nutrition, migration, crisis→ affect growth
and development
✓ Example: Studies have shown Growth in height is on average fastest in spring and
growth in weight fastest in the autumn. The average velocity of height from March
to May is about twice that of from September to October in most of the western
European data.
(c) Prenatal Period (during pregnancy)
✓ Infection to mother can retard growth of foetus
✓ Malnutrition of mother – anemia can cause low birth weight, premature birth
etc.
✓ Drugs: Teratogenic Ex:- Thalidomide causes congenital defect
✓ X-ray exposure is harmful to foetus
✓ Hormonal influence Ex: insulin, growth hormone, Thyroxin; Example- Diabetic
mother → over size baby
(d) Post Natal period:
✓ Nutrition (explained later)
✓ Chemical agents- drugs and medications ex:- antibiotics, steroids
✓ Trauma
✓ Infections.
3. Biochemical Factors:
▪ Human growth and development largely is an interplay of hormones secreted by
various endocrine glands.
▪ It is very Crucial in some stage of development and any fluctuation causes serious
imbalance in Growth & Development.
Important hormones responsible for Growth
Prenatal Growth Post-natal Growth Adolescence
✓ Thyroxin. ✓ Thyroxin Growth Sexual maturity
✓ HCG ✓ Growth Hormone Promoting
✓ Testosterone ✓ Thyroxin FSH
✓ Hormone of LH
Adrenal Gonadal
cortex Hormone-
✓ Growth Oestrogen,
Hormone Testosterone,
✓ Testosterone progesterone
How do they act- (Hormones)

✓ Control growth, maturation and regeneration
✓ Regulate sexual cycle
✓ Adaptation to external stimuli
✓ Regulating metabolic activity
✓ Maintain homeostasis Dietary Requirement

✓ By controlling morphogenic activity
Caloric requirement Protein
(on average)
4. Nutritional Factor:
▪ An adequate supply of various nutrients such <1 year - 100 to 150 2g/kg- Birth
as proteins, carbohydrates; fats, vitamin, cal/day 1.9 g/kg- 2years
1 year - 1000 1.8g/kg - 4 years
minerals, water, etc., is necessary for general 2 year – 1100 (add 100 (reduce 0.1 g
growth of the body. cal every year upto 11 every 2 year till
▪ Nutritional deficiencies retard normal growth years) adult age)
11years – 2000 cal/day 1g/kg – 20 years
during childhood and delays further growth (adult) (Adult)
process. * However it varies
according to physical
▪ Nutritional requirement varies from individual
activity
to individual on basis of age, sex, activity etc.
▪ Under nutrition can cause apathy, indifference to learning, develop low IQ,
variety of metabolic disorder /disturbance, resistance to infection is reduced, Higher
morbidity and mortality.
During post-war periods (World War I and World War II) several studies were conducted
in different parts of the world to assess the effects of diets on growth. During that period
there was a shortage of food supply in some populations. The people were under
nourished, As a result, the children of those populations were shorter and lighter. But after
restoration of normal food supply both height and weight of these populations showed
uniform increase.
5. Cultural and socio economic Factors:

▪ It has an impact on Nutrition, Hygiene which has direct bearing on Growth
▪ Poverty, illiteracy, overcrowd etc retard growth
▪ Conditions at home like Personality of parent, Smoking, Broken home also impact
growth
▪ Some studies reveal that the children of upper socioeconomic classes are taller and
heavier than those of the lower socioeconomic classes.
▪ The size of the family exerts an indirect influence on the rate of growth. In large
families with limited income, children do not get adequate quantity of food. As a
consequence their growth is affected.
▪ Cultural factors, such as taboos associated with various foods, may also influence
growth
▪ Culture- like preference to male and neglect of female child (in patriarchal society) are
other factors
▪ Social Mobility: Few studies revealed that abnormalities of growth resulting due to
poor socioeconomic conditions act as both cause and effect.
Well off → Good nutrition → Taller & intelligent → Upward mobility
poor →Poor Nutrition →less intelligent and short →pushed to lower strata
This represents a complex mixture of genetic and environment effects are reinforcing
each other
▪ Emotions: children who are deprived of mother, father, orphan show retarded Growth
& Development. stress, panic, anxiety → also reduce appetite → reduced nutreints
Tanner (1972) study: Difference between the height of children of unskilled labourers and
managerial classes is about 2cm at the age of 3 years and rises to 5 cm at adolescence.
Study on British people in 1980 revealed that social class differences in height is about 3cm
in males and 2cm in females.
New Trend in Growth & Development:

1. Increase in average height and weight of individual throughout the world.
2. Earlier Age of Menarche: West European data indicates that the menarche age
reduced by 4 months per decade between 1830-1960
Cause:
1. According to Tanner → Improved nutrition, better balanced diet.
2. Improved environment circumstances- Better medical facilities, improved hygiene,
stable polity etc.
3. Non consanguineous Marriage/out marriage (Exogamy)
Industrialization + Urbanization + development in transport → High mobility →
Out Marriage/Non- consanguineous marriages → Hybridization → Better growth
and Development
In India-
In India, an increase in stature and decrease in age at menarche was reported when
daughters were compared with their mothers thereby indicating the presence of secular
trend in the Punjabi Arora females (Khanna and Kapoor, 2004).
Studies on mean menarcheal age of Maharashtrian girls, from 1960s onwards to 2000,
have shown a consistent decline of age at menarche on an average, by about 6 months
per decade as compared to 3-4 months in some countries of Europe, North America, anc'
several parts of the world. It reflects the improved socio-economic, nutritional and
general health conditions in India as compared to these countries where similar standards
were achieved much earlier (Bagga and Kulkarni, 2000).
The Saharia, a primitive tribal group of Madhya Pradesh, depicts lower mean age at
menarche among daughters (13.3 years) than their mothers (13.5 years). This may be
attributed to the improved socio-culturallife as a consequence of shift from traditional
practice of cultivation, hunting, gathering, pastroalism to daily wages (Biswas and Kapoor,
2004).
Methodologies for Growth Studies:

The study of growth and development is very important in biology as it throws light on the
mechanism of evolution. Anthropometric technique is the most popular techniques of
studying growth and employed by many researchers. Growth can be studied by three
methods, i.e., cross-sectional, longitudinal and Sequential studies.
1. Cross Sectional study:

• In this method the subjects involved in the study are measured only once in their
life time.
• This method is very popular because it is quicker, cheaper and less laborious.
• In most of the growth studies, this method is used.
• It Provides information about differences in development among different age
group.
• This method also doesn’t have to worry about subjects dropping out
• Issue: masking of differences among individuals, since it looks at group average
• Cannot eliminate cohort or generational influences on subjects born at different
times
• Ex: it would be incorrect to conclude from the cross- sectional study that intellectual
functioning declines in later years.
2. Longitudinal study:
• In this method the individuals are measured to see changes in development more than
once in their life time.
• Longitudinal studies give correct information on individual variations in the rate of
growth in particular age-groups.
• Such studies are time consuming, costly, laborious and also require lot of patience on
the part of the investigator.
• The researcher may measure one characteristic, such as vocabularies, size, IQ, height,
aggressiveness, or may look at several aspects of development to find inter
relationships among factors.
• Since same people is measured over time- it gives a picture of process of development
• Merit – sensitive to individual pattern of change. Avoid cohort effect within a study
• Drawback –
o Time consuming and expensive.
o Probable bias in the sample population- Those who volunteer tend to be of
higher than average socio economic status and intelligence.
o Results can be affected by repeated testing.
o People tend to do become better in later tests because of a practice effect.
Longitudinal study In India:

Mixed longitudinal method
A longitudinal study on Indian children and adolescents
enrolled in Sri Aurobindo International Centre of In this method children of a
Education (SAICE), has revealed decline in the age at particular age-group are sometimes
Onset of Pubertal Growth Spurt and at Peak Height added to the already ongoing
longitudinal study. But for certain
Velocity (PHV) in girls over four decades (1950-89)
reasons, some of the children may
whereas the same parameters were constant in boys not be available for the next time
(Virani, 2005). measurement in a longitudinal
study. They are then replaced by
3. Sequential studies/ Cross-sequential studies: another set of children to keep the
• IT is designed to overcome the drawback of continuity. This type of study is
longitudinal and cross sectional studies. more complicated and special
• The method combines both the types ie the people statistical tools are required to get
maximum information out of mixed
in cross-sectional sample are tested more than once
longitudinal growth data.
and the results are analyzed to determine the
differences that show up overtime for the different groups of subjects.
Longitudinal Ageing Study in India (LASI)

▪ Launched by The Ministry of Health & Family Welfare (March 2016)
▪ It will survey more than 60,000 elderly over 25 years plan.
▪ The study will provide valuable data on their health needs, and issues faced by
elderly, given the changing social structures, and help us to draw policy tools to
address their issues. It will also help in designing schemes for the elderly.
▪ LASI is the largest study on older population in the country.
▪ The International Institute for Population Sciences (IIPS), Mumbai in collaboration
with Harvard School of Public Health (HSPH) and University of Southern California
(USC), USA is undertaking the Study
▪ LASI is jointly funded by the Union Ministry of Health and Family Welfare, the
United States’ National Institute on Ageing, and the United Nations Population
Fund-India.
Ageing and Senescence

Senescence- Change which occur generally in the post reproductive period and which results
in reduced survival capacity on the part of the individual organism.
Ageing processes are those which render individuals more susceptible as they grow older to
various factors, intrinsic or extrinsic which may cause death.
Characteristic feature:
1. The changes that occur are deleterious as they lead to death of an individual by
reducing the capacity of an individual.
2. Due to cumulative effect of deleterious age related changes death is sudden, though
the process that lead to death are gradual.
3. The process involved are common to all members of a species and one fundamental
intrinsic properties of living organisms.
Process of Ageing:-
▪ Accumulation of large number of molecules in the cell as growth proceed
▪ This cause Damage to the bimolecules which are present within and outside cell ie
molecular damage.
▪ This Impairs sub cellular function
▪ Decreased efficiency of sub cellular functions → Cell death or impaired cellular
function (Decreases the efficiency of cell)
▪ This leads to Impairment of tissue (changes in extra cellular environment) and organ
function
▪ Causing Deterioration of the whole organism.
✓ Reducing Efficiency of immune system
✓ Reducing neuro muscular system
▪ Which ultimately results in Increased probability of dying.
Theories of Ageing:
1. Cellular Theories of Ageing
(a) Theory of Genetic blue print by Leonard Hayflick
(b) Theory of free radical reactions
(c) The Error theories
(d) Error catastrophic theory
(e) Theory of missing factor
2. Extra cellular and pacemaker Theories
(a) Collagen Theory
(b) Immunological theory
(c) Brain as a pace maker theory
3. Modern theory of Ageing
(a) Programmed Ageing theory

(b) Wear and tear theory
(c) Stretcher theory
(d) Telomeric theory
CELLULAR FACTORS:
Theory of Genetic Blue print by Hayflick
▪ Cell biologist Leonard Hayflick (1965), made a significant discovery that in each cell
there is an hour glass that gives it a definite time to live and no more.
▪ For example the Human lung fibroblasts divide and their division is limited
▪ Number of cells is roughly related to the age and life span of the species.
▪ Senescence occurs due to loss of cell functions, that occurs before cells reach their
maximum division point → the haflick limit
Theory of Free Radical Reaction

▪ Enzymatic reactions → produces super oxide radical (02-) → reacts with water to
produces Hydroperoxyl radical (HOO) (Highly acting)
▪ It reacts with Unsaturated lipids to produce Lipofuscin (Age-pigment)
▪ Free radicals thus formed are harmful when they react with cell membrane and
effects the passage of nutrients and excretion of toxins through it.
• This leads to senescence and cell death.
The Error Theory
▪ Error in DNA occurs during Replication from time to time or due to Mutation
▪ Most of the error is detected by our repair mechanisms and eliminated. However
some are Undetected by DNA repair system or the damage of DNA is faster than the
action of repair system
▪ This leads to Accumulation of DNA error → Impairing cell function and Obstruction of
synthesis of essential Enzyme/protein → Cell senescence and Cell death
Error catastrophic Theory(Orgel’s Hypothesis)

• Certain types of error during the process of DNA replication produce a great number
of subsequent error.
• Thus error in replication would be error catastrophic
Theory of Missing factor:

▪ Factors that advance the onset of ageing can be either Endogenous (Mutation) or
Exogenous (nutrition, stress)
▪ It Leads to Non-functioning of genes responsible for maintaining adulthood →
Senescence and ageing.
EXTRA CELLULAR FACTORS:
Collagen theory
▪ Collage makes up 40% of body protein ; It is present in extra cellular spaces.
▪ Collagen is made up of 3 polypeptide chains, supported by non- covalent bounds
▪ As Age advances → non covalent bonds are stabilized by covalent bond
▪ Thus Healthy cellular environment is not kept → Movement of products are
obstructed → Accumulation of toxins and under nourishment of cell
▪ Ultimately leads to Cell senescence.
Immunological theory:
▪ Efficiency of the immune system (spleen, Lymph Nodes, Bone marrow, thymus)
reduces after attainment of adulthood
▪ Immunity can also cause ageing by the production of auto-immune response.
▪ All this can lead to cell deaths and cell senescence
Brain as pace maker It is now generally believed that the
▪ The hypothalamus is a small but important area pineal gland and its principal
in the center of the brain. It plays an important hormone melatonin are involved in
role in hormone production and helps to the central master clock mechanisms
stimulate many important processes in the that regulate time and trigger both
body and is located in the brain, between the developmental and ageing
pituitary gland and thalamus. processes. This is accomplished by
▪ The hypothalamus acts as the connector melatonin through its regulation of
between the endocrine and nervous systems to the activity of pacemaker cells
achieve this. It plays a part in many essential located in the hypothalamus of the
functions of the body such as: body brain. This pineal gland is both a
temperature, thirst, appetite and weight primary clock and a pacemaker. Its
control, emotions, sleep cycles, sex drive function as a pacemaker is carried
childbirth, blood pressure and heart rate, out through the production of new
production of digestive juices and balancing hormones which subsequently
bodily fluids control the entire nervous system
▪ As different systems and parts of the body send and endocrine axis and hence
signals to the brain, they alert the maintains homeostasis.
hypothalamus to any unbalanced factors that
need addressing. The hypothalamus then responds by releasing the right

hormones into the bloodstream to balance the body.
▪ In Aging → the hormones secreted is reduced → affection physical health and mental
health, reduce immune system and general functioning of the body → leading to
senescence
MODERN THEORY
Programmed Ageing theory
▪ Bodies age is built into every organism
▪ It is only subjected to minor modifications
▪ Pattern of ageing is predetermined and in born
▪ Confined to chromosome – 1 or 21
Wear and tear theory

▪ Continuous use of body → accumulation of this insult causes ageing
▪ As time passes → ability to repair/replace damaged component reduces
▪ Internal and external stress aggravate the wearing down process.
Chronological And Biological Age:
Chronological ageing or longevity is defined as the number of years that any individual has
added to his life span based on his date of birth i.e. chronological age is simply age in years.
Biological ageing or longevity is the age in which old age symptoms appear and efficiency of
person reduces ie it is age at cellular level.
Chronological Ageing Biological Ageing

Based on Date of Birth Based on problems
No impairment of function Impairment of body functions regardless of
age
Person may be old but may not suffer from Individual may not be old, but may be
old age problem suffering from health problem.
Lifestyle factors such as - nutrition, food choice, exercise, antioxidant status, stress etc have
impact on Biological Ageing.
Example of High chronological age with corresponding low biological age are seen in the
people of longevity hot spots around the globe. Among these are Okinawa (JAPAN) Nicoya
(Costa Rica), Sardinia (Italy). In these places researchers find an unusually high number of
centenarians. They have the biomarkers of people much younger than their chronological
age.
According to Blue zone research some of the factors that positively influence
longevity and quality of life include-
✓ Eating primarily plant based diet.
✓ Spending time in nature
✓ Exercising a strong faith
✓ Investing in family and community
✓ Experiencing a clarity of sense of purpose.
Understanding difference between Chronological Ageing & Biological Ageing is important

because – it helps the individuals to influence the process of ageing by making choices on a
daily basis.
Life table/Mortality table/Actuarial table.

A table which shows, for each age, what the probability is that a person of that age will die
before his or her next birthday (Probability of death)
▪ From this starting point, a number of inferences can be derived.

o The probability of surviving any particular year of age
o Remaining life expectancy for people at different ages
▪ Life tables are also used extensively in biology and epidemiology. The concept is also of
importance in product life cycle management.
▪ There are two types of life tables:
o Period or static life tables -show the current probability of death (for people of
different ages, in the current year)
o Cohort life tables -show the probability of death of people from a given cohort
(especially birth year) over the course of their lifetime.
Life tables can be constructed using projections of future mortality rates, but more often they
are a snapshot of age-specific mortality rates in the recent past, and do not necessarily
purport to be projections. For these reasons, the older ages represented in a life table may
have a greater chance of not being representative of what lives at these ages may experience
in future, as it is predicated on current advances in medicine, public health, and safety
standards that did not exist in the early years of this cohort.
Life tables are usually constructed separately for men and for women because of their
substantially different mortality rates. Other characteristics can also be used to distinguish
different risks, such as smoking status, occupation, and socioeconomic class.
Life tables can be extended to include other information in addition to mortality, for
instance health information to calculate health expectancy.
Application:
In order to price insurance products, insurance companies must develop projections of future
insured events (such as death, sickness, and disability). To do this mortality tables are useful.
Human Physique and Somatotypes

Somatotyping technique is a useful method to describe the configuration of the entire body
and the sum total of morphological, physiological and psychological characters of an
individual which may be defined as the quantification of the current shape and composition
of human body through the analysis of its component.
Viola, an Italian physician and Kretschmer, a German Psychiatrist was pioneer in classifying
human physique mainly based on visual observation and few somatometric measurements
and soon after were followed by Sheldon, a Psychologist; Heath, a Physical Anthropologist;
Carter, a Kinanthropometrist and many others who refined and modified the system of
classification.
Numerous factors such as age, sex, nutrition, physical performance and environment affect
the somatotype of an individual. However, due to its distinctiveness, the technique has been
profusely used for studying population variation and/or age and sex variations.
BASIC CONCEPTS:
Physique: Physique is defined as the configuration of the entire body, rather than specific
features of the body. It is the body form of an individual. Physique is readily observed and is
useful in assessing the outcomes of underlying growth and maturation processes, which leads
to better understanding of variation in physiques among individuals of the same or different
populations.
Human physique (constitution) is governed by
✓ Physiological aspect (function)
✓ Behavioural (psychological) aspect
✓ Structural (anatomy) aspect (morphologcial)
Human physique is almost constant and is determined largely by the genetic constitution
of the individual apart from other factors like environment. Persons exhibit different
morphological, physiological and behavioral traits and accordingly different scholars have
classified humans into different types → THIS IS SOMATOTYPE.
Somatotype: Morpho-
Somatotyping: Somatotyping is one of the most useful phenotypic ranges along
methods of evaluating human physique. Somatotype is a constantly recognizable
physique classification system of quantified expression and characteristics and are the
describes the physical characteristics of the body and functional end products of the
allows a definition of body type through the analysis of its whole genetic and
components. developmental complex.
Somatotyping is the description of

body type based on three
components of endomorphy,
mesomorphy and ectomorphy.
Endomorphy is the relative fatness,
mesomorphy is the relative musculo-
skeletal robustness, and ectomorphy
is the relative linearity or slenderness
of a physique. A somatotype is usually
given as a composite of three
numbers, in which each number
demonstrates the strength of the
respective component parts. The
most widely used somatotyping method is that of Heath and Carter which is the classical
method of anthropometric somatotype.
Somatotype is aimed at providing a sort of identification tag to an individual and may be
regarded as an attempt towards general human taxonomy or classification.
METHODS OF CATEGORIZING HUMAN PHYSIQUE

Physique has been an important subject matter in courses on human biology. In the history of
physique and constitutional investigation, physicians, psychologists and physical
anthropologists have been prominent, particularly in studies of morphology and its
interrelationships with susceptibility to diseases and temperament.
The history of analysis of human physique and categorization can be traced back to as early
as fifth century BC. Hippocrates, a Greek philosopher and physician described two basic body
types as habitus phthisicus and habitus apoplecticus in the fifth century BC. He described
habitus phthisicus as those with long, thin body and susceptible to tuberculosis, Habitus
apoplecticus describes as people with short and thick body, and were susceptible to vascular
disease and apoplexy.
Anthropometry was first used by Elsholtz in the studies of morphology, establishing a
method for taking measurements on the body at the University of Padua in the seventeenth
century. Introduction of anthropometry in morphology study added new dimensions to' the
study. Let’s now look at more recent methods of classification….
Viola System:
▪ In the early part of the twentieth century an Italian physician, G Viola, studied
anthropometry and differentiates four morphological types.
▪ He took into account ten measurements of the body in his study and devised method
of analyzing human physique.
▪ He classified four physique types as longitype, brachitype, normotype and mixed type
▪ Longitype:
✓ Relatively long legs compared to the trunk.
✓ Massive thorax compared to abdomen
✓ Greater transverse diameter compared to ant-posterior ones.
▪ Brachitype:
✓ Broad type
✓ Opposite of longitype
▪ Normative:
✓ Individuals who fall between the 2 categories
▪ Mixed type:
✓ Exhibit, character of different types in different parts of body.
Kretschmer’s system:
▪ In 1921 Kretschmer, a German psychiatrist, described characteristics of three
categories of physical and psychic types based on visual observation and few
measurements.
▪ He observed the association of physique with psychological characters like
temperament of the person.
▪ Kretschmer gave detailed account of the three categories as athletic, pyknic and
leptosome types.
▪ Athletic or muscular type was described as those with strong and muscular limbs,
large and muscular thorax and shoulders, strong bone structure, heavy and strong jaw,
long face, and average to tall height. They are often schizophrenic.
▪ Pyknic or fatty have tall stature, broad figure, fat, round and sturdy. They often
become manic-depressive-psychosis.
▪ Leptosome or lean type has long and thin body, limbs are slender, and hands are bony
and are slightly anemic.
▪ Kretschmer's faced criticism for scanty measurements, lack of indices, less sample,
failure to classify data according to sex, age and social status, and eventually his work
was outmoded. Nevertheless he gave significant and farreaching contribution on
constitutional investigation.
A remarkable advance over preceding system of classification occurs with the

founding of Sheldon's somatotype concept of continuous variation in 1940. Sheldon's
introduction of the concept of somatotype providing three dimensional systems for human
physique description and modifications of it by Health and Carter have produced a useful
research tool for the study of human somatic variation.
Sheldon’s initial research was derived

Sheldons System
▪ Sheldon defined somatotypes as from examining 4,000 college students.
morphophenotypic ranges along continua of He took photographs from the front,
variation which possess constantly side and back of each subject. Special
recognizable characteristics and are the care was taken to manage the type of
functional end products of the whole genetic camera, lens, camera distance and
and developmental complex. lighting to avoid deformation while
▪ He successfully formulated method to taking photograph on the students. By
analyze and quantity human body form visual observations on nude
through somatotyping. photographs of the student taken in the
▪ He Recognized – 3 basic components of three poses, somatotyping was done.
physique: He recognized 79 types of physiques
(a) Endomorphy- from the study.
✓ General softness and roundness of body
✓ Proximal parts are relatively massive than distal ones
✓ Tapering of extermities
✓ Abdomen predominating over thorax
✓ Soft body contour
✓ Relatively small hands and feet.
(b) Mesomorphy:
✓ General massiveness
✓ Sturdiness of musculoskeletal system
✓ Highly developed limb muscles with distal segment of the extremities
relatively more prominent
✓ Strong and highly muscular thorax which predominates over abdomen.
✓ Transverse diameter > Anteroposterior diameter
(c) Ectomorphy:
✓ Thin and lean body
✓ Weak muscle
✓ Thin skeletal diameter
✓ Sharp and pointed body projections
✓ Long and slender extremities with little muscle over them.
▪ Each individual has varying

degrees of development of
these 3 component.
▪ Somatotype is always written
in three numerals form, the
first indicates endomorphy,
the second is mesomorphy
and the third indicates
ectomorphy.
▪ Sheldon's concept of the
three components of
physique was rated on 7-point scales, where 1 was assigned as the minimum possible
development and 7 the maximum. Number 4 was assigned as the midpoint. Number
1 was retained as the minimum rating point instead of a possible zero because of the
fact that no human exhibits a complete lack of any component of physique.
▪ Sheldon found out that there were three extremes of body size. 7-1-1 represents the
first extreme, which is endomorphy. 1-7-1 stands for the second extreme represented
as mesomorphy. 1-1-7 represents ectomorphy, which is the third extreme. 4-4-4
stands for a balanced somatotype with each of the three components being equally
represented.
▪ For the purpose of morphological observations Sheldon – the body components into
5 areas
I. Head, face and Neck,
II. Thorasic trunk
III. Arms shoulders and hands Each component was scored from 1 to 7
IV. Abdominal trunk
V. Legs and feet
▪ Criticism:
✓ Somatotype changes
✓ It is not objective
✓ Developed on white male- limited range; ignore- age, race and females
✓ Ignores environment
✓ There are two primary components, not three, as ectomorphy and endomorphy
are essentially the inverse of each other,
✓ Overall body, size and shape of the subject is ignored.
Health –Carter Method:

Heath and Carter method is an improvement of Sheldon's concept of somatotype. Sheldon’s
three dimensional systems for depiction of physique as endomorphy, mesomorphy and
ectomorphy was retained in their work. They incorporated anthropometric measurements
to establish the present morphological configuration. They also developed the Heath-Carter
chart. Heath-Carter somatotype method is the most widely used method today.
▪ It evaluated the physique at a given time compared to the unchanging somatotype of

Sheldon.
▪ The rating of 3 primary component of physique are assigned on the basis of following.
Anthropometric measurement.
(a) Heights
(b) Body Weight
(c) Supra spinal skin fold
(d) Calf skin fold
(e) Humerus diameter
(f) Femur diameter etc.
▪ Ten anthropometric dimensions are
required to calculate the anthropometric somatotype: stature, body weight, four
skinfolds (triceps, subscapular, supraspinale, medial calf), two bone breadths
(biepicondylar humerus and femur), and two limb girths (arm flexed and tensed, calf).
▪ There are three ways of obtaining the Heath-Carter method of somatotyping:
1) Anthropometric method: In this method anthropometry is used to estimate
the criterion somatotype.
2) Photoscopic method: Here ratings are made from a standardized
photograph.
3) Anthropometric plus photoscopic method: This method combines
anthropometry and ratings from photograph it is the criterion method.
▪ Evaluation:
✓ Highly objective
✓ Excellent tool to explore spatial & temporal variation in human body form
✓ Easy, accurate, efficient
✓ Workable in field as well as lab
Demographic Theories
Demography is the study of human population their growth and decline due to changing
patterns of migration, fertility and mortality and characteristics such as sex ratio, dependency
ratio and age structure.
Sub category under this is population studies, which involves investigation of the causes and
consequences of population structures and changes. This is the area where anthropologist
are interested in.
Anthropological demography is a specialty within demography which uses anthropological
theory and methods to provide a better understanding of demographic phenomena in current
and past populations.
▪ Its genesis and ongoing growth lie at the intersection between demography and socio-
cultural anthropology and with their efforts to understand population processes,
mainly fertility, migration, and mortality.
▪ Both disciplines share a common research object, namely human populations
▪ Demography is statistically oriented and is mainly concerned with the dynamic forces
defining population size and structure and their variation across time and space,
whereas socio-cultural anthropology is interpretative and focuses on the social
organization shaping the production and reproduction of human populations.
▪ The main theoretical concepts in anthropological demography are culture, gender, and
political economy; its empirical research approach includes a mix of quantitative and
qualitative methodologies applied to case studies. Ethnographic fieldwork and
participant observation are often central to this approach Social demography: It is
as is an interpretative reading of secondary data (official concerned with analysis of
statistics of births, deaths, population census ) and how social and cultural factors
historical material. are related to population
Significance: characters. They seek to
▪ Demographic behavior is a part of individuals whole understand and explain the
sociopsychological behavior. Socioeconomic condition demographic patterns.
guides demographic behavior and by employing concepts
of demography, socioeconomic conditions can be clearly understood.
▪ Secondly majority of problems connected with population are classified as social problems.
Values are an integral part of any society. Demography can’t ignore these values. Thus a
holistic approach, drawing from anthropology is required.
▪ Even success of family planning programme are determined by socio cultural consciousness
of people.
▪ Produce population projections which will help in framing social policy and labour market
policy
There are 3 main variable underlying population change- fertility, mortality,

migration which themselves are dependent on number of other variables. For UPSC, as a
student of Anthropology you will have to focus on 2 aspects in this section. One the various
demographic theories and the second is the biological and socio-ecological factors influencing
fecundity, fertility, natality and mortality (Next chapter). In this chapter, we shall discuss the
various demographic theories.
THEORIES OF DEMOGRAPHY:
Date Demographic Perspective
~1,300 B.C. Genesis: be fruitful and multiply and fill the earth
~500 B.C. Confucius: governments should maintain balance between population
and resources
~360 B.C. Plato: population quality more important than quantity
~340 B.C. Aristotle: population should be limited; abortion might be appropriate
~50 B.C. Cicero: population growth necessary to maintain the Roman Empire
~400 A.D. St. Augustine: abstinence is preferred way to deal with sexuality; second
best is to marry and procreate
~1280 A.D. St. Thomas Aquinas: celibacy is not better than marriage and procreation
~1380 A.D. Ibn Khaldun: population growth increases occupational specialization and
raises incomes
~1500– 1800 Mercantilism: increasing national wealth depends on a growing
population that can stimulate trade
~1700– 1800 Physiocrats: population size depends upon the wealth of the land, which
is stimulated by free trade (so-called laissez-faire)
Modern Theory
1798 Malthus: population grows exponentially, food supply grows
arithmetically; poverty is the result in the absence of moral restraint
~1800 Neo-Malthusian: birth control measures are appropriate checks to
population growth
1945 Demographic transition in its original form: the process whereby a
country moves from high birth and death rates to low birth and death
rates
Malthusian theory:
▪ It’s an economic approach to demography
▪ The most well-known early scholar who wrote about population growth
▪ Main argument: material resources (food and shelter) can grow at an arithmetic rate,
while populations grow at a geometric rate – If left unchecked, population grows
exponentially and subsistence
▪ He influenced Charles Darwin, Herbert Spencer, David Ricardo, John Maynard Keynes,
and many others
▪ It is An empirical theory as its based on west European countries.
▪ It is based on 2 assumptions.
- Assumption:1 Food is always necessary for mankind
o population growth is limited by means of subsistence.
o Population growth increases in proportion to increase in subsistence
o Population growth increases unless moderated by certain checks.
- Assump:2 Passion between both the sexes will remain at same levels of intensity
throughout human history
▪ Implication:
- Birth rates will remain at high levels
- population growth will proceed in a geometric ratio
▪ Further according to him these 2 assumptions are immutable and opposed to each
other. The relationship between these 2 – Food production grows in an arithmetic ratio
and population in geometric ratio → gap between food availability and population
widens.
▪ Consequence of the rising gap:
- Increase stress of rising population on natural resources leading to breakdown of
natural ecosystems.
- This will trigger natural catastrophe Or Malthusian catastrophe in the form of
famines or floods
- Widening gap between rich and poor. Rich will try to control more resources but less
offspring fearing decline in
standard of living.
▪ The Malthusian catastrophe
- Inevitable unless some
checks come into operation
- Preventive checks- within
control of man eg- moral
restraint, birth control etc
- Positive checks- largely outside control of man eg- war, disease, poverty
- Man should take active steps by resorting to preventive checks to prevent
catastrophe.
- Though he talks of birth control, he was not convinced about contraception (it would
increase birth rates in the longer run).
Criticism of Malthusian theory:

(1) Malthus could not envisage technological revolution which led to greater sustenance
ways, thereby preventing Malthusian catastrophe.
(2) He described humans as no different than all living organisms in the ability to increase
at a geometric rate
(3) He mixed up a purely biological instinct (sex) with a purely social instinct (children)
(4) The arithmetic v/s geometric ratio failed empirical validity in different regions. Not
valid for Europe or North America – With the industrial revolution, the increase in
subsistence have far exceeded the human tendency to reproduce
(5) Greater emphasis on positive checks and unethical nature of preventive checks. Belief
that moral restraint was the only acceptable preventive check – Avoiding intercourse
until marriage – Some argued that he ignored the impact of contraception as He was
a clergyman.
Theory of optimum population

▪ By Edwin Canan
▪ Population should grow to a optimum level ie when the society is able to run its
minimum and essential services → optimum Population. It is when birth rates is equal
to death rates. Beyond this it is harmful for the society.
▪ Assumptions: The theory assumes, there is a close relation between population size and
economic development. When the population is able to exploit natural resources and
capital, at optimum level, there is economic development. If lesser population →
Population growth is required to ensure use of all resources → when resources fully
utilized →optimum population; Population growth beyond this → disturbance in the
balance.
Classical theory :
▪ By David Ricardo
▪ Economic theory/model to population growth.
▪ Stages:
(1) Demand for labour → high growth rate of population
(2) Labour supply increases → reduction in wages
(3) Equilibrium between demand and supply of labour. Once equilibrium achieved,
capital accumulation stops and everyone receives same wage. This acts as a
deterrent to further population growth. Beyond this level growth of

population leads to universal poverty.
Karl Marx Theory (proletariat revolution)

▪ An economist and philosopher, who disagreed with Malthus about his theory
▪ He was also a Critique of capitalism.
▪ Two classes of people: the bourgeoisie (capitalists) and the proletariat (the workers)
▪ To Malthus, population was an independent variable creating distress (poverty)
▪ To Marx, population was the dependent variable; Capitalism is the main cause of
poverty, not the population. Regardless of fertility level, bourgeoisie benefits the most
▪ Population growth can be a problem. However, the potential difficulty can be regulated
in communist society
▪ Stages in a capitalist society
(1) Rich own means of production and low population growth. Poor don’t own any
means of production → labour is their asset and thus increase population rapidly
(2) Eventually poor uproot the capitalist order by revolution and assets are equally
owned by all.
(3) This slows down population growth.
▪ He also suggests population growth can be slowed down by communist system of
production instead of a revolution.
Herbert Spencer’s theory: Natural law of population growth.

▪ There is antagonism between individuation and genesis. So as a society evolves, and
increasing socio-cultural development, man’s interest in reproduction decreases
(fecundity decreases).
▪ Thus man has no role in controlling numbers. Nature achieves this by reducing man’s
reproductive interests with increasing cultural development.
Cyclical Theory:
▪ Corrado Gini
▪ Human population follows the cycle of growth of the individual- birth, growth and
death.
▪ Stages:
➢ Stage I- Rapid population growth
- Youthful nation.
- Rapid population growth
- Simple undifferentiated structure
- High fertility because each generation is born out of people who are
hereditarily most prolific ie highly fecund.
- Growth of the nation
- As number increases, organizations become more complex.

- Structure becomes more complicated, industrial and commercial activities
grow.
- Attempts are made to check population either through colonialism or war
➢ Stage- II Decrease in population
- Due to- colonization or war→ results in loss of young and energetic people.
- Increase in number of upper class which is less prolific than lower class.
- Hence the decline is biological, due to reduction in fecundity
- As the lower class moves up the ladder, even they reflect lowered fertility
rate. It’s not due to social conditions around them but weakening of
reproductive instinct.
- Further there is a decline in quality of individuals due to change in hereditary
quality of individuals → more mortality, hereditary disease → lower fertility
▪ Thus rise and fall of population is determined by an inevitable natural growth. Some
sort of mystical biological changes determine both qualitative and quantitative
changes in human population.
▪ And these changes are beyond human control.
▪ Thus his theory analogizes population growth to human cycle of birth, growth and
death.
Destiny and Fecundity theory

▪ Thomas sadler
▪ Critique of Malthusian theory on population
▪ The law of population: fecundity of human beings is in inverse ratio of their conversion
into their numbers.
▪ Two important prerequisites for maintain population growth is labour and privacy.
▪ Stages:
(1) Growth and advancement of civilization
(2) Machines started replacing humans leading to decrease in desire to put in labour
and hardworking attitudes. Value of labour reduced
(3) Shortage of accommodation leads to lack of privacy
(4) Both these lead to reduction in fertility rate.
Diet theory:
▪ Thomas Doubleday
▪ Man’s increase in numbers is inversely proportional to his food supply
▪ Better food supply → slower growth in population
▪ Poorest have less food supply → constant increase in population
▪ Further Non vegetarians less capacity to reproduce, hence low density of

population among pastoralists.
▪ Fertility higher among vegetarians; Moderately high in mixed.
▪ Poorer countries are highly populated because they have undernourished population
which is more fertile.
Theory of demographic transition: (Important – 10/15marks)

Demographic transition theory is the most prominent explanation for population growth.
Also known as classic demographic transition
▪ Developed by Warren S.Thompson (1929) and Frank W.Notestein (1945), and extended
by Kingsley Davis (1963)
▪ It is a more recent and rational theory, based on demographic experience of many
nations and accepted by majority.
▪ Changes in the size of the world’s population over a certain period of time are due to
fertility and mortality changes
The population dynamics of any country pass through a series of stages, each having its
peculiarity. During the period of transition the demographic factors get out of harmony. A
new constellation of demographic forces is brought about which changes the character of
society; Birth and death rates become balanced at a lower level as a result of which
population growth also declines.
There are 4 stages through which any country passes through:

I. First stage: Pre-industrial Society
II. Second Stage: Industrial revolution
III. Third Stage: post-industrial society
IV. Fourth stage- stabilization
There could be a possible Fifth stage.
This model of demographic transition describes the transition from high birth rates
and death rates to low birth and death rates as a part of economic development of a country.
Figure: Demographic Transition- Stages
Stage- I Preindustrial stage

- Agrarian economy
- High birth and death rates
- High death rate due to
✓ Poor diets
✓ Primitive sanitation
✓ Lack of medical facility
- High birth rates due to
✓ Illiteracy, lack of knowledge about Family planning
✓ Early age at marriage
✓ Deep rooted customs and beliefs about size of family and children
✓ Economic advantage of large size family
- Stage of high potential but low population growth
Stage II – Industrial revolution:

- Birth rate remains high but death rate declines.
- Growth rate of population accelerates, average size of family increases.
- Low death rate due to
✓ Improved food production; better agricultural practices
✓ Improved transportation → availability of regular food
✓ Improved health and sanitation
✓ Improvement in General personal hygiene
✓ Medical progress.
- This is the Stage of population explosion
- Change in age structure of population → increasingly youthful
- As death in stage 1 was due to high IMR, now due to reduction in deaths, more people
survive to reach reproductive age.
- Stage 2 occurred in western Europe during 19th century. developing countries are
experiencing it in 20th and 21st Century, resulting in population explosion.
Stage III- post industrial revolution (incipient decline in population)

- Birth rates falls, balancing lower death rates.
- Fall in birth a rates is due to socio economic changes. This includes-
✓ Urbanization
✓ greater economic roles for women outside home
✓ Desire for Smaller families (family becomes unit of consumption and ceases to be a
unit of production); Increase cost of living
✓ high standard of living
✓ Better access to contraception
✓ Higher wages, commercial
agricultural
✓ Lesser value for children’s work
✓ Greater investment in education of
children
✓ Lesser acceptance of child bearing
and motherhood as measures of
status of women
✓ Same sex marriage
✓ Increase in Divorce
✓ Increase in age of marriage
- Change in age structure: fever children → lower youth dependency ratio; Live longer
→ higher old age dependency ratio
- This leads to reduction in population → lower population growth
*Between these 2 stages there is demographic window of opportunity called

demographic dividend ie the population has fewer dependents and higher working age adults
→ higher growth economically;
Stage IV – stabilization:
- Population growth stabilizes, birth rates fall in line with death rates
- Some cases, birth rates fall below replacement level resulting in shrinking of population.
- Death rates → low or increases slightly due to lifestyle diseases and ageing population
- As population growth slows down, large previous generation put a growing burden on
smaller younger working population. Thus some countries may have difficulty funding
pensions and other social security schemes for retirees.
Stage V (proposed):
- Both more fertile and less fertile futures
- Some have sub replacement fertility ie less than 2.1 children/women
- Seen in Europe and East Asian countries
- Population ageing and eventually population decline occurs.
- Increasing tendency of low fertility countries relying on immigration to maintain their
populations – This changes composition of national populations, culture, physical
appearance, social experiences, self-perceived identity
Thus these stages reveal the transformation from a primitive high birth and death rate
economy to a low death rate and birth rate economy.
Historically it is observed that death rate is easily controlled than birth rate. Because the
measures to reduce death rate is exogenous and hence rapidly acceptable to people.
Reduction in birth rate requires operation of endogenous factors like changing social
attitudes and customs, beliefs about family size, marriage etc. This requires much longer time
than fall in death rate. So birth rates tend to fall after a time lag. So when economy shifts
from I to II stage, there is imbalance due to fall in death rate, but stable birth rate and hence
population explosion. This stage is most hazardous for developing economy and requires a
period of transition for adjustment. During this transition, newer demographic forces bring
about changes in character of society, birth and death rates thus brings a decline in
population
Biological and socio-ecological factors influencing fecundity,

fertility, natality and mortality
BASIC CONCEPTS
Fecundity is a measure of the number of offspring produced by an organism over time. It
is also called the reproductive rate of an organism. Fecundity is measured by the number
of offspring that are created successfully.
A population exhibits more fecundity when each organisms produces more offspring
successfully, and the population grows.
Fertility is simply a description of whether or not individual animals are able to reproduce.
An organism can produce many gametes ready for fertilization, but may never get the
chance to reproduce. This organism would be fertile, but would show no fecundity.
As a measure, fertility rate is the number of offspring born per mating pair, individual or
population.
Thus Fecundity is what can be (Actual)… and Fertility (Potential) shows what is…
Natality (Natality Rate – number of births per 1000 individuals per year) is the scientific
term for birth rate.
Mortality rate, or death rate, is a measure of the number of deaths (in general, or due to
a specific cause) in a particular population, scaled to the size of that population, per unit
of time. Mortality rate is typically expressed in units of deaths per 1,000 individuals per
year.
Mortality rate and natality rate is used to calculate the dynamics of a population. They are
the key factors in determining whether a population is increasing, decreasing or staying the
same in size.
Bio events to Fertility:

Fertility is the realized capacity of individual to produce children. All the activities to produce
children in both male and female are called bio-events to fertility.
These bio-event are:
- production, storage, maturation, transport and capacitation of spermatozoa and
synthesis of testosterone in the male gonad
- Production of ova, hormones in female
- Fertilization, implementation, development and growth of foetus and and parturition
- Apart from these menarche, menopause in female and male climacteric also influence
fertility.
Relevance of menarche and puberty:

▪ Menarche is beginning of cycle of menstruation.
▪ The ovarian changes in turn depends on FSH & LH which intern depend on GnRH
[(Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) Gonadotropin-
releasing hormone (GnRH)]
▪ The age of menarche varies considerably depending on:
✓ Socioeconomic status.
✓ Nutritional status
✓ Genetic influence
✓ Urban living
✓ Physical activity.
Relevance of menopause:
▪ Occurs when Oestrogen production falls below critical value after about 45 years.
▪ At the time of menopause, there is low in oestrogen which leads to many psychological
changes like hot flushes, irritability, fatigue, anxiety, low strength and reduced
calcification of bones etc.
Male climacteric:
▪ After age 50 testosterone reduces
▪ It does not develop in most men, but some develop symptoms similar to those of female
menopausal syndrome.
FACTORS INFLUENCING FERTILITY:

The mechanisms influencing fertility have been categorized by kingsley Davis and Judith
Blake. They have given 11 ‘intermediate variables’ which affect fertility, since any other
variable must ultimately act through one of these.
I. Factors affecting exposure to intercourse.

A. Those governing formulation and dissolution of unions in the reproductive
period.
(1) Age of entry into sexual unions:
- Europe: age at marriage is late due to delay in being able to support his
family.
- Asian countries early, since marriages are arranged and not expected to
support family entirely on his own.
(2) Permanent celibacy (abstaining from sexual reproduction) – proportion is higher
in nations which have a late average age at marriage.
(3) Amount of reproductive period spent after or between unions
- All societies actual fertility is reduced below maximum due to this.
- In monogamy, certain proportion widows never remarry
- Widowers prefer to marry unmarried women

- Periods of separation in break ups due to marital incompatibility or to avoid
additional pregnancy
- Changing marriage preference- Same sex marriage.
B. Those governing the exposure to intercourse within unions

(4) Voluntary abstinence.
- some ceremonial occasions
- Pregnancy and early post partum period.
- Rhythm period when practiced properly has greatest effect on conception
(5) Involuntary abstinence: in few societies a large proportion of men must absent
themselves periodically to obtain gainful labour.
(6) Frequency of intercourse: affected by diet, temperature, humidity and prevalence of
enervating diseases.
II. Factors affecting fertility within intercourse
(7) Fecundity or in-fecundity as affected by involuntary causes:

- Venereal disease affect both men and women
- Extreme hunger causes amenorrhoea in women and reduced sperm count
in men
- Modern medicine has found ways to reduce proportion of people who are
involuntarily childless.
(8) Use or Non use of contraceptives
(9) Fecundity or in-fecundity as affected by voluntary causes:
- Surgical operation like vasectomy and tubectomy
- Prolonged breast feeding (on a worldwide basis it’s one of the most
important means by which women may temporarily reduce her fecundity)
III. Factors affecting gestation and successful parturition.
(10) Fetal mortality from involuntary causes- average 20% of all pregnancies are
spontaneously aborted.
(11) Fetal mortality by voluntary causes – induced abortion.
Fertility pattern and differentials:

The levels and patterns of fertility vary in various sub groups of the population.
Why is it important to study of differential fertility:
1. Useful in identifying factors responsible for different fertility levels.
2. Gives us idea of proportion of each group in future and thus project more accurately
the population size in future.
3. Important for implementation of family planning programme
Various factors that affect fertility:

(1) Ecological factors
(a) Regional differences- population of North India is more than South
(b) Rural – Urban residence:- fertility is higher in rural than urban. Even when birth
rates at national level fell, gap widened.
(2) Socio economic factors:
(a) Educational attainment – especially of women has impact on family size → higher
education→ smaller family size.
(b) Economic status: inverse relationship with fertility; Poorer family tend to have
larger family (Labour is an asset → hence more children). However there is a
reversal seen in developed country; Richer family have more children.
(c) Occupation of Husband: Studies in Europe, France, US and India → Farmers and
agricultural workers have greater fertility than white collar professionals.
(d) Employment of wife: If wife is gainfully employed → have lesser children.
(e) Religion, Caste, Race: At one time, except Buddhism all religion, were populationist
It was a functional adjustment to high mortality to ensure continuity of the group.
- Lorimer and Osborn pointed out that resistance to human interference with
fertility is common to all religions. But its less persistent in those groups with
no central authority; Eg:- Jadaism, protestants, Hinduism.
- Off late the differentials are narrowing due to modification in the religions
sanctions for birth control and weakening of influence of religious doctrines.
- In Developing countries like India- Minorities like Muslims > Hindus→ Some
sociologists believe minority religions tend to have higher fertility to gain
political power. But exception is Zoroastrians in India.
- In conclusion, it’s difficult to determine the exact role of religion, as it
depends on other socio-economic factors of that groups. Role, thus, can be
said is limited though not negligible.
- Difference in Feritilty is also seen among Caste and Race- can be attributed
to socio-economic factors. Ex: In lucknow upper caste Hindus – Avg 3-8 live
births and lower caste- 4.1 live births
Low Fertility in developed countries

Factors associated with long term decline in fertility in developed countries include-
Motivational factors:
The attitudinal change towards the size of the family after industrial revolution acted at the
level of individual couples. State as well as church were against the spread of birth control.
But the strong desire to have a small family of couples brought about the change.
Economic and Social factors: Wealth flows theory

i. Industrialization ▪ Theory to explain fertility difference
ii. Urbanisation ▪ John Caldwell(1976)
iii. Rising levels of living ▪ Fertility patterns depend on the
iv. High cost of living and bringing up intergenerational flows of wealth and
children services
v. Family function and structure changed ▪ When flows run from children to their
vi. Change in relationship between parents, parents will want to have large
mortality and fertility families
vii. Social mobility ▪ When flows run from parents to their
viii. Government took over responsibility children, parents will want to have
of medical treatment and old age small families
security ▪ The “emotional” nucleation of the
ix. Changing role of women; higher family is crucial for lower fertility –
female labour force participation rate Parents become less concerned with
x. Low child mortality rate; low mortality ancestors and extended family than
rate with children and grandchildren
xi. Acceptance of family planning
xii. Personal aspirations to move up the
social ladder
xiii. Changing value system like individualism
xiv. Secularization
Please note: The explanation of the above has been given in the Demographic theory in the previous
chapter.
Factors resulting in high fertility in developing countries

(1) Motivational factors:
- Adjustment to high mortality. Even when health services improve decline in death
rates don’t become evident to people.
- Central importance given to familial and kinship ties. All activities are centred
around kinsmen and requires occupational Cooperation.
- Fatalistic attitude to life- Strong influence in deciding about choice of

children (Act of God)
(2) Family Structure and function:
- Function- Family is centre of production and consumption of goods; leisure
activities; assistance in illness and old age. Hence larger the family better.
- Important given to male child, for religious or social or economic purpose
- Children are considered wealth and prestige of family→ add political and economic
power.
- Even when they migrate to urban areas, they add to family income due to strong
ties → thus there is no economic motivation to restricting number of children.
(3) Economic, Social and other factors:
- Religions institutions
- Widespread poverty
- Low literacy—against rational and secular thinking
- Low status of women
- Low standard of living – apathetic state of mind and hardly any desire to improve
standard of life.
MORTALITY
Patterns of mortality:
Sex differences:
- In general females have overall advantage over males and higher life expectancy.
- The gap in life expectancy between males and females is wider in developed than in
developing countries.
- Social scientists cite following reasons for this:
o Different Roles played in society: since he is the bread winner, more stress both
physically and emotionally.
o Age of retirement involves loss of status and prospect of inactive life → have
emotional impact → effecting health
Age differences:
- Age specific death rate (ie number of deaths of given age/1000 in given year) is used to
compare differences.
- In countries with high mortality the typical age specific age mortality is ‘ U shaped →
mortality is high at extremes of life →High infant mortality rate and death due to old
age.
- In low mortality countries (developed countries) → its J shaped due to low IMR. It also
has a broader base indicating deaths over large number of age groups.
Factors affecting, infant mortality – classified into

- Neonatal mortality – till 28 days
- Post neonatal mortality – 28 to 365 days.
(a) Neonatal mortality- affected by endogenous factors ie related to formation of foetus, so
mainly biological. The factors affecting are:
✓ Age of mother
✓ Birth order
✓ Birth spacing
✓ prematurity
✓ weight at birth
✓ Multiple birth
✓ Maturity of infant
So foetal and neonatal deaths are mainly genetic and intrauterine cause.
(b) Post neonatal deaths- mainly by exogenous factors- Socio, cultural, economic, environment.
✓ Epidemics of communicable diseases
✓ Faulty feeding practice
✓ Poor hygiene
✓ Overcrowding and congestion
✓ Unsanitary condition
✓ Lack of Proper sunshine and fresh air
*In countries where IMR is low, infant deaths are mainly neonatal since they would have eliminated
environmental factors and vice versa.
Reasons for High Death rates till 19th:

1. Acute and chronic food shortages—malnutrition.
- Agriculture was primitive → affected by the vagaries of nature
- Inefficiency of labour
- Pest and plant diseases
- Problems of storage, transportation
- High infection/ human disease – less efficient work
2. Epidemics- TB, plague, pneumonia, small pox, typhoid, dysentery
3. Recurrent wars
4. Poor sanitary conditions
5. Natural disaster like cyclone, draught etc
Causes for reduction in mortality in developed countries:

(1) Industrial and agricultural revaluation → increase in food supply.
(2) Improvement in Transportation → spread of technology
(3) Improved storage
(4) Higher standard of living
(5) Improvements in sanitary conditions and public health measures
(6) Social reforms- working hours, minimum wages, social security systems
(7) Improved literacy → personal hygiene; improvement in prevention of disease
(8) Development of asepsis and antisepsis
(9) Development of immunology and vaccines
(10) Advances in chemotherapy and antibiotics
(11) Effective insecticides- DDT
Mortality differentials:
(1)Urban – rural differential: Data is limited, but at present the difference is very small. In the
past, prior to 20th century mortality was higher in urban areas than in rural areas.
(2)Occupation- has an important bearing on health habits; Occupation is related to education and
income → which in turn affect diet, housing conditions and habits; Exposure to occupational
hazards can also have impact on mortality rates
(3)Education of parents especially mothers → affects IMR. IMR is inversely proportionate to
education status of mother.
(4)Marital status- Mortality rate is lower for married males and females, than for unmarried of
same sex and age. Demographers explain this by the fact that those who are healthy are more
likely to get married. Besides they are more secure and protected and lead a more sober life
( A happy marriage will increase your life expectancy ☺ )
Social consequences of mortality decline:

(1) Change in institution of mourning : unlike earlier, bereavement does not elicit fixed
responses, from people around. Most commonly there is denial of bereavement
(2) Impact on character of religion: Decline in emphasis on other world, extremely negative
attitudes with religion also declined. Reduced general concern with immortality.
(3) Change in family structure: In high mortality countries nuclear family is strongly dependent
on larger kin group; In low mortality, they are at a distance. There is increase in Nuclear family
in high mortality country.
(4)Change in intensity of interpersonal ties: - Earlier due to high deaths at young age, the
emotional attachment was forbidden.
(5)Similarly arranged marriages are more common in high mortality areas due to less emotional
commitment. Pressure for easy divorce increased with reduction in mortality
(6)Difference in Orientation in time: High mortality tends to make people more oriented about
present than future. This further affects degree of achievement motivation. Further, parents
won’t make sacrifices for children as they don’t survive for longer
Applied Anthropology
Anthropology has achieved the status of being more than just an academic discipline.
Applied anthropology is the practical use of anthropological theories and methods outside
the academic setting. The basic of applied anthropology basis lies in making theoretical
anthropological knowledge useful. An applied anthropologist can be qualified in any or all
the branches of anthropology. Physical Anthropologist exploits their expertise to design
clothes and equipments to fit human body and also enjoy significant role in providing
forensic support in court. As the perception of evolutionary biology incorporates both the
natural and social sciences, it has also influenced such applied areas as medicine,
psychotherapy, education and conservation.
The basic objective of all sciences is to apply the results of scientific knowledge in
betterment of mankind.
▪ Applied anthropology came into picture when the anthropologists’ worked on
disadvantaged people in other cultures and realised the need for their improvement.
▪ In fact, today anthropologists are involved in understanding and finding solution to
the problems in their own society in an endeavor to improve people’s lives.
▪ Rudolf Virchow, one of the most prominent 19th century German anthropologists
regarded as pioneer of social medicine, founded the public health service in Berlin.
French anthropologist, Paul Broca’s input to medical treatment of brain disorders is
unparallel.
▪ The applied anthropologist with their general background in social anthropology have
specialised in diverse fields such as tribal development, rural and urban planning,
demography, family planning, education etc.
▪ They collaborate with other social scientists, with policy planners and administrators
for the welfare of people.
▪ Then with the advent of twentieth century, endless applications of physical
anthropological research can be boasted of which vary from designing the
dimensions of fighter plane cockpits to assisting apprehending criminals to urban
planning.
Today, most applied anthropologists are practitioners who use cross-cultural knowledge and
anthropological methods for research and action around the world, not only from a
university base. Practicing anthropologists are found in all business, government, health,
education, and human services domains. They may work for politicians, in hospitals, school
districts, research and consulting firms, or state and local governments. Anthropologists are
also administrators, program directors, and even business owners. They craft and manage
solutions.
Anthropology of Sport /Kinanthropology:

Sports has developed to be part of human culture as recreational activities. Though these
activities constitute the cultural aspects, the biological aspects of man considerably influence
the performance in any sporting event. Physical factors like body size, body proportions,
physique and nutrition influence the performance. As sports gained lot of importance, every
country tried its level best to select the best talented individuals for different sports. To select
the best individuals we need to understand the body requirement for each sport. This branch
of anthropology is called kinanthropology.
It evaluates physical structure of individuals in relation to gross motor functions. It also
includes the study of such aspects as maturation, nutrition and body composition.
✓ Term coined by- Bill Ross, 1972
✓ Considered in Olympic scientific congress, Quebec in 1976, prior to Montreal Olympic
games, 1978
✓ UNESCO has been instrumental behind most initiatives for development of
Kinanthropometry when it founded an International Working Group on
Kinanthropometry at Brasilla, working under the International Council of Sports Science
and Physical Education..
There are various factors that influence the performance of an individual in sports which
depends on both heredity and environment. However genetic has a greater role to play in
the formation of phenotype.
Phenotype variation in size, physique, body composition, metabolic power, strength, speed
and skill, cardio-vascular adaptations are governing forces behind a sportsman’s
performance.
Environment can shape a genotype into a fit type by way of training and motivation.
Kinanthropometry aims at selecting the fit genotype which help individuals attain fullest
potentialities.
Apart from muscle strength, a sport will also need coordinated body movements.
Anthropometric studies help select players who can have better potentialities in a particular
sport than others.
Apart from physique and body composition, the favourability of one somatotype over other
depends on flexibility of training, motivation factors and psyche. Anthropology can aid design
a better training and motivational strategy. Further Anthropology is also helpful in
redesigning sports equipment to suit the particular somatotypes.
Example- in India Dr. Sachidananda, Sanyal and Dr. Sachindra Narayanan conducted studies
on Souria paharias and redesigned hockey stick and bow and arrow suitable for their short
stature.
Initially kinanthropology were focused upon physique only. Further after discovery of
various diagnostic tools such as ultra sound, CT scan etc now it is possible to analyse deep
seated muscle. Based on the study at Australian institute of sports – specific gene in short
distance runner and long distance runners were identified.
Alpha actin-3 (ACTN-3) synthesizes a protein which can combine with glucose which are
released in between muscles, which should contract very fast, among short distance
runners. This glucose provides energy for speedy contractions.
Alpha Actin-2 (ACTN-2) synthesizes a protein which keeps low level of lactic acid in muscle
in long distance runner. https://telegram.me/pdf4exams
Different somatotypes and sports:

By making use of the techniques of Kinanthropometry – a comprehensive approach to assess
an individual’s physique have been made by various Anthropologists. Anthropologists have
been able to classify humans into different somatotypes and suggest correct sport for them.
For example-
• Skater- Balancing power – must be short to keep the centre of gravity low.
• Gymnast also short – to keep centre of gravity low.
• Weight lifters (studied by tanner)
✓ Limb height less than trunk height
✓ Short stature→lesser strength to overcome gravitational pull.
• Foot Ball: hind limb characteristics are important like femurs vs tibial length, patellar
height, metatarsal length, size of arches of foot.
• Swimmers- uniform thick layer of substance fat – protect them from cold water.
• Long distance runner – high anaerobic power → High level of blood alkali
• Hockey, tennis, Badminton- Hand anatomy → Humeral vs radio-ulnar length, size of
metacarpals and phalanges.
• Sports needing sudden jerk (weight lifting) → High lung capacity
• Jumping and throwing event → Tall stature→ greater strength to their size and greater
lung capacity, higher centre of gravity
Mostly used anthropometry system is given by More house and Rasch on the
basis of height – weight index
HEIGHT CATEGORY WEIGHT CATEGORY SUITABLE FOR

SHORT Heavy Weight lifting
Medium Gymnastic
Light Skating
MEDIUM Heavy Throwing
Medium Long distance swimming
Light Hockey, Football
TALL Heavy Wrestling
Medium Boxing
Light Sprinting and jumping
Nutritional Anthropology
The term Nutritional anthropology pertains to studies in which nutrients and nutritional
status of an individual or community are of core concern. It also includes the study pertaining
to growth and genetic aspect of nutrition in relation to ecological and social history of
population.
It includes other discipline like nutritional science, epidemiology and public health under
its gamut. It is relatively new branch and include research towards following directions:
1. Food intake, nutrition and health
2. Population genetics, physiological adaptation and nutrition.
3. Socio cultural process and nutrition
4. Socio epidemiology of nutrition.
5. Relation between beliefs and ideas and nutrient intake and nutritional states.
Social factors, cultural practices and food habits have significant role towards achieving
balanced diet. A balanced diet is very essential for healthy living. Dietary habits of population
in different countries of the world have been determined mainly by the local availability of
foods and local practices. In many countries practices are specifically designed to protect and
support good health. Traditional food practices may not always lead to balanced diet. Cultural
taboos in some societies may be responsible for under-nutrition. Nutritional anthropologist
tries to understand this variation.
Thus the first step of Nutritional Anthropology is the Nutritional Status Assessment. Status of
nutrition may be measured through nutritional intake or by anthropometric, biochemical or
clinical methods. Abnormal values are associated with various types of morbidity and in
severe cases, with mortality. Nutritional anthropology studies the cause and the problems
associated with poor diet practice and measures to address it.
Nutritional assessment of a community is to map out magnitude and geographical

distribution of malnutrition as public health problem, to identify and analyze ecological
causes that are directly indirectly responsible for such a situation and formulate guidelines
for improvement of nutrition and health.
In this chapter on Nutritional Anthropology we need to understand the concept of nutrition,

the measures of the status of nutrition and the consequences of deviations from the standard
values for an individual or for the society as a whole.
BASIC CONCEPTS
Nutrition: It is a physiological fact which helps organisms to assimilate the nutrients of

the food for proper maintenance and growth and development of the body. It is a
combination of processes by which all parts of the body receive and utilise the materials
necessary for their functions and growth and renewal of all the components
Optimum nutrition: When a person receives and utilises essential nutrients in proper
proportions according to the requirements of the body it is called optimum nutrition.
Nutritional status: It is the condition of the body which relates to consumption and
utilisation of food. The nutritional status of a person may be either good or bad adjudged
by the adequacy or excessiveness of nutrient intake and their utilisations.
Good nutritional status: It is the state of a well-balanced diet in which all the essential
nutrients is supplied to meet the body's requirements.
Poor nutritional status: It refers to the state of inadequate or excessive intake or

improper utilisation of the nutrients to meet the body's requirements.
Malnutrition: It refers to the effects on the human body due to excess or inadequate
dietary intake.
Assessment of Nutritional status

Assessment of Nutritional status of an individual is an important aspect of Nutritional
Anthropology.
The state of health of an individual is affected by the intake of food and its utilisation.
Nutritional status is a condition of intake and utilisation of food items and its manifestation
in health condition of an individual.
There are four methods for assessment of nutritional status:
a) Anthropometric measurements
b) Biochemical and biophysical tests
c) Clinical examination
d) Dietary survey
Nutritional Anthropometry:
▪ It is concerned with the measurement of variation of physical dimension of body
especially during the rapid growing period of early childhood.
▪ Selected Body measurement can provide valuable information regarding certain types
of malnutrition.
▪ Various method, the choice of which depends on the objective and the purpose of
survey. It has immense value in developing countries- assessment of growth failure and
under nutrition, especially arising from lack of protein and calorie intake.
▪ Commonly used anthropometric measurements for assessment of nutritional status are
height, weight, circumferences of mid upper arm, head, chest etc.
▪ There are some indices based on these measures. Three nutritional indices as weight
for age Z score (WAZ), height for age Z score (HAZ), weight for height Z score (WHZ) are
calculated using World: Health Organization (WHO) 'standard for preschool children.
▪ Similar indices are used along with body mass index (BMI) percentiles for children aged
5-19 years.
▪ The international standard for assessing body size in adults is the Body Mass Index
(BMI), which is defined as the weight in kg divided by the square of height, measured in
meter.
▪ We can find out the state of under-weight, over-weight or obese of a person by
comparing the values of these indices .
▪ Evidence shows that values beyond the critical levels of these indices are associated
with various types of morbidity and in severe cases, with mortality.
Figure: Mid Arm circumference- Useful for mass screening of malnutrition
Biochemical test
▪ Can be carried out on various body tissue including liver, muscle and bone.
▪ The underlying principle of this method is that any changes in the quantity and
composition of the diet is reflected by variations in the concentrations of nutrients or
their associated compounds in different body tissues and fluids along with the
appearance or disappearance of metabolites.
▪ The method of biochemical assessment estimates the concentrations of essential
dietary constituents in the body to evaluate nutritional status.
▪ Haemoglobin estimation is the most important test to interpret the overall state of
nutrition. This indicates prevalence of anaemia and deficiencies in proteins and trace
elements.
▪ Stool examination is utilized to test for the presence of ova and/or intestinal parasites
▪ Urine examination can be used for albumin and sugar tests.
Bio physical method:

▪ Radio graphic examination
o Ex:- Rickets (Vitamin A Deficiency) - Widened concave, rarefied, frayed distal
ends of long bone usually radius & ulna
o Osteomalasia – loss of density of bone.
o Beri Beri- increase cardiac size.

▪ Test of physical function Ex: visual acuity; dark adaptations of eyes, capillary fragility
▪ Cytological test: Ex:- stained epithelial smear from buccal mucosa- assess protein
calorie malnutrition.
Clinical signs/examinations
▪ Clinical examination is a simple, yet objective method to assess nutritional status.
▪ The signs and symptoms can be in the skin, mouth, gums, nails, lips, eyes and hair of the
subjects under study.
▪ Clinical examination may be defined as the method of assessing the nutritional status
of an individual by examining the clinical signs and symptoms.
▪ Group I- Signs considered to be of value in nutritional assesment. Ex: oedema (protein
deficiency); Cheilosis and tongue change (Vit-B), Petechiae (vit C), Night blindness,
dryness, and opacity of eye (vit-A), Glossitis ad papillary atrophy (Iron)
▪ Group- II Signs requiring further investigation.
▪ Group-III signs not related to nutrition.
Figure: Signs of malnutrition
Diet history :
▪ The dietary data can be collected from individuals and/or families depending on the
need and the model/hypothesis
▪ Dietary surveys are nowadays being increasingly used for both population estimates
and individual assessments.
▪ Dietary survey may be defined as the systematic study of the dietary intake of
individuals and populations/communities. The dietary methods can be both qualitative
and quantitative.
▪ Dietary surveys are extensively used in the areas of nutritional epidemiology, clinical
assessment, population surveillance and experimental research.
▪ The dietary surveys have some general advantages. They are inexpensive, relatively
easy, objective and yet easy to reproduce. No sophisticated laboratory is required. It is
a non-invasive method and there is no requirement of the collection, transportation
and analysis of any human tissue.
▪ The dietary surveys have certain general disadvantages. The assessment of the food
amount is usually done by the subjects which may be erroneous. There may be
variations in the daily diet that may not be accurately reflected. There also could be
under-reporting by the respondents and of course, measurement errors.
▪ Types of dietary surveys : Twenty-four hour recall, Weighed intake, Food frequency
questionnaire, Food diary and Dietary history
▪ Under Recall method, All the food items that were consumed during the last 24 hours
are recorded → converted into nutritive values → compare them with the available
chart of Recommended dietary allowance. In India we follow the chart prepared by
ICMR according to age or sex of individual.
Nutrition and cultural practice

Social factors and cultural practices in most of the countries have an impact on what people
prefer to eat. In many countries practices are specifically designed to protect and support
good health; providing women with rich, energy dense foods during the first months
following childbirth. It is, however, true that some traditional food practices and taboos in
some societies may contribute to nutritional deficiencies among some particular groups of
the population. Traditional food practices may not always be a scientific one leading to
balanced diet; and cultural taboos related with some essential food items in some societies
can lead to malnutrition because of nutritional deficiencies. Here is an analysis of the same-
Traditional Diet:
▪ Traditional customs, however, always play an important role in food habits. What one
society regard a normal or even highly desirable, another society may consider revolting
or totally inedible.
▪ Animal milk is commonly consumed and liked , in most parts of Asia, Africa,
Europe and the America , but in China it is rarely taken.
▪ Foods like lobsters, crabs and shrimps are considered delicious by many people in
Europe and North America, but are revolting to many people in Africa and Asia,
especially those who live far from the sea.
▪ The French eat horse meat, whereas the English generally do not.
▪ Many people will delightedly consume the flesh of monkeys, snakes, dogs and rats or
will eat certain insects, however, many others find these foods most unappealing.
▪ Religion may have an important role in forbidding the consumption of certain foods. For
example, Muslim and Jewish do not consume pork, and Hindus do not eat beef.
▪ Ethiopian newborns might be given a spoonful of soft rancid butter or warm water with
sugar to oil the pipes and sweeten the vocal cords.
▪ Some of the societies prefer to introduce solid food early to their babies for weaning,
while other prefers the reverse. In Africa and Asia many mothers believe that one can
wait until children have teeth at one year before feeding them solid food. Others believe
that a special kind of traditional food with lots of mass but few calories will satisfy
children's hunger. Both of these diets lead to malnutrition.
Nutritional advantages of traditional food habits

▪ Food habits in most of the traditional societies in developing countries arc good in
general.
▪ Eating protein-rich foods such as insects, snakes, baboons, mongooses, dogs, cats,
unusual sea foods and snails is definitely beneficial.
▪ Some African tribes puncture the vein of a cow, draw, off a calabash of blood, arrest the
bleeding and consume the blood, usually after mixing it with milk. Blood is a rich food,
and mixed with milk it is highly nutritious.
▪ In some pastoral societies drinking of soured or curdled milk is in practice rather than
fresh. The souring of milk has little effect on its nutritive value but often substantially
reduces the number of pathogenic organisms present in body. Communities where
milking is not hygienically performed the milk is likely to be contaminated, it is safer to
drink sour milk rather than fresh milk.
▪ Many societies, for example in Indonesia and in parts of Africa, partly ferment foods
before consumption, Fermentation may both improve the nutritional quality and
reduce bacterial contamination of the food.
Food taboos:
▪ A taboo related to food may be followed by a nation, by a tribe or by certain groups in
the society. Within the society, different food customs may be practiced by women or
children or by pregnant women or female children.
▪ Sometimes traditional food customs are practiced by a particular age group, and in
other instances a taboo may be linked with an occupation such as hunting.
▪ A taboo may also be imposed because of some particular event such as an illness or an
initiation ceremony.
▪ Many taboos concern the consumption of protein-rich animal foods, often by those
groups of the community most in need of protein.
▪ Harmful taboo: All new food habits are not good for nutrition . A common taboo in
Africa against the consumption of eggs. This taboo usually applies to females, who are
said to become sterile if they eat eggs. Some societies forbid some foods to women
during pregnancy that hamper their balanced diet.
▪ Reasons behind food taboos in many countries are mainly due to prevailing food
customs which are often governed by their religious practice.
Food Habits and The Changing Scenario

▪ In many countries the current staple foods are not the same as those eaten even a
century ago. Food habits do change, and are influenced by the changing life styles.
▪ In general increase in Economic standards show shift from carbohydrate food to protein
based food.
▪ In United Kingdom and the Russian Federation, white bread has been replaced by brown
or whole-grain breads, and in East Africa highly milled maize meal is being replaced by
lightly milled maize flour.
▪ Urbanization, modernization and sophistication have often led to diets in which a
greater percentage of energy intakes come from sugar and fats, and increased
consumption of salt.
▪ Problems of Changing food habit- Increase in energy based food is leading to obesity.
Similar consumption of fatty food is leading to increase in coronary heart disease.
▪ Another particularly misleading type of change relates to the glucose products said to
provide "instant energy". Energy is present in large amounts in nearly all the cheaper
foods.
▪ Similarly, drinks advertised as "rich in vitamin C" are usually unnecessary, since few
children suffer from vitamin C deficiency. Vitamin C can be obtained just as well from
fruits such as guavas, mangoes and citrus, or from a range of vegetables.
▪ Baby food supplementary is also another such example. (In India advertisement on baby
food supplementary has been band; There is no supplement for mothers milk)
Anthropology in designing equipment

Anthropology is a holistic science of man. This places the discipline of anthropology in special
advantage in helping in designing equipment’s including defence and day-to-day objects,
based on anthropometry and cultural preferences.
Earlier equipment was designed without taking into account the physical characteristic of the
users. Anthropometry concerned with the measurement of human body plays an enviable
role in designing equipment as they provide information on the range and variation in body
shapes. This holds significance because it affects the utility of equipment, clothing or work
space, significantly in designing automobile seating or aeroplane cockpit where reach or field
vision is a critical factor.
Anthropometry is a branch of physical anthropology, concerned with the measurement of
the human body. It provides information on the range and variation of body shape, size and
fit. All these designs are based on statistical measurement of range and variation of human
body.
Use of anthropometry in the design of military apparel and equipment has a long history,
reflecting the knowledge that
Designing requirement can be classified into 3 groups:

1. Work place design: Includes designing of any space for human occupancy during work,
recreation, rest, education travel etc. the designing ensures that adequate workspace,
proper location of control, display and devices. The measurement required in
designing include reach limit, body clearance, eye location etc.
2. Clothing and personal equipment designing – garments, space suits, helmets, gloves
etc. The designing of such thing must assure proper fit, minimise restrictions of
movement. The body measurements generally required for this purpose include
circumstance body contours, limb movement etc.
3. Components and devices – help maximise the efficiency of them.
How it Benefits-
1. Efficiency of equipment is dependent on human variability – anthropologist provide
such data which is easy to understand and ready to apply.
2. Human variability – one size cannot fit all. Thus equipment’s have to be designed
keeping in mind the variability among the end users. Example- different varieties of
helmets
3. Reduce fatigue and discomfort
4. Improves the work efficiency.
5. Economic benefit. Example: Anthropometric data has been intelligently

applied by anthropologists for Air Force by improving the flying efficiency of the pilots
thus saving much money on procurement of large number of pilots.
6. Safety. Example- designing airbags in cars or ejection seats in aircrafts
7. Cultural sensitivity
SOME AREAS OF APPLICATION:
Designing Defence Equipment

One of the most momentous applications of anthropometry is designing of defence
equipment which dates back to World War II with the contribution of physical
anthropologists as the experts of human anatomy. There has been no looking back after that
as anthropometric research has played pertinent role in engineering designing of many
technologies right from Jet-fighter ejection seats to analysing human posture in zero gravity
on Skylab experiences.
▪ Military personnel differ in body size and shape from the general population. Many
items of military apparel and equipment are classified as personal protective
equipment (PPE), and increasingly organisations such as the International
Organization for Standardization are including reference to body dimensions when
describing design and performance requirements of PPE. These are not restricted to
males but body sizes of females are also taken to procure clothing and other garments
for service women
▪ A gun turret is designed using scientific principle
that any extrusion from an aircraft adds air
resistance in such a manner that the gunner has
all the free movement of his body needed. This
not only reduces their discomfort of long
occupancy in a cramped enclosure but also
increased efficiency of crewmen, and ensured
effective means of escape from an aircraft in
emergency.
▪ Improvising the cock-pit size in different types of air craft and designing of various seat
configurations for both fighters and bombers which assisted in reducing cockpit
fatigue and discomfort by proper body support.
▪ Flight clothing - Anthropologists have contributed in providing sculptor-carved
wooden head forms in four statistically derived sizes: extra-large, large, medium and
small to the helmet manufacturers as standards to provide correct size-control.
▪ Great deal of physical anthropologist’s concern also lies in designing of oxygen masks
using set of seven statistical sizes and shapes of sculptured face forms for correct fit.
▪ The ejection seat and vehicle passenger safety modifications have helped
crew accommodation in the space capsules as well as cockpits and seats of advance
fighter aircrafts and automobiles thereby reducing the
severity of damage during accidents.
▪ Talking of jet engines at high altitudes where the jet flies
human body, has the tendency to swell up due to reduced
atmospheric pressure. Now in such a scenario, clothing
for high altitudes has to be designed in a manner that
would prevent muscles from expanding. Using the
anthropological technique, it was construed that stature
and weight generally yield the highest correlations with
other body dimensions and were projected to be
diagnostic dimensions for complex fitting garments. (G-
suit)
Designing other objects

Anthropometry can play an important role in industrial design, clothing design, ergonomics
and architecture where statistical data about the distribution of body dimensions in the
population are used to optimize products. Changes in lifestyles, nutrition, and ethnic
composition of populations lead to changes in the distribution of body dimensions (e.g. the
rise in obesity), and require regular updating of anthropometric data collections. In fact after
1942, anthropometric applications were exploited by other fields of human activities to
improve work efficiency by reducing discomfort of people.
▪ The design requirements include work space design, clothing and personal equipment
design.
▪ Workplace design includes designing of any space for human occupancy during work,
recreation, rest, education, travel, treatment, etc. The intention behind such designing
aims to ensure that there is enough operational work space and proper location of
controls, displays and devices for the convenience and efficiency of the operator.
▪ Designing of automobile interiors, aircraft cockpit, seating apparatus, doors, tunnels,
furniture and kitchen are some of the examples where workplace designing is needed
for better results.
▪ The measurements required in designing workplace include reach limits, body
clearance, eye location, etc.
▪ The body measurements that are considered for designing clothing and personal
equipment are the circumferences, body contours, limb movements etc.
▪ Clothing and personal equipment design includes designing of garments,

sportswear, press suits, helmets and gloves, knobs, handles, switches, etc., basically
to ensure proper fitting and comfortable movement.
▪ Use of anthropometry in the design of apparel and equipment should contribute
towards improved fit, better integration and compatibility among apparel items and
equipment, and maximised mobility
▪ Use of anthropometry in designing interiors of the car, not just helps in improving the
comfort, but can also reduce the severity of damage during accidents.
Did you know? Design anthropology is a form of applied anthropology that makes use of
ethnographic methods to develop new products, services, practices and forms of sociality.
It is also used to describes the practices of anthropologists who collaborate with designers
and team members from other disciplines in order to develop new product ideas.
Forensic Anthropology
The term Forensic Anthropology entails the application of anthropological and medical
knowledge to queries of law. This science is used in detection of crime. Forensic
anthropology is the largest and very popular applied sub discipline of physical anthropology.
➢ The scope of forensic anthropology as an applied discipline in physical
anthropology was recognised by C C Show in 1972.
➢ By virtue of the fact that Physical anthropologists study osteology, they would be
able to contribute considerably in the field of crime.
➢ There are two aspects of Forensic Anthropology which hold importance:
o Identification of decomposed or mutilated bodies and the analysis of
skeletal and fragmentary remains.
o To identify any evidence left at a site of crime even in an unimportant
proportion, finger prints, skeletal remains, teeth, saliva, blood or scratches
of skin tissues which help to identify the persons involved.
Definition: Application of physical anthropologists specialised knowledge of human sexual,

racial, age and individual variation to the problems of medical jurisprudence
Significance:
• Role as an expert witness in identifying unexpected deaths, most importantly
intentional deaths (Crimes)
• Identification of individual from skeletal remains. Example: In the days after the attack
on the World Trade Center in New York on September 11, 2001, forensic
anthropologists from around the country were called in to help identify the victims
• Forensic anthropologists play key roles in the attempt to identify victims of
earthquakes, plane crashes, floods, and other natural and human-wrought disasters.
• They are called upon by law enforcement authorities to identify murder victims
• Forensic anthropologists also investigate human rights abuses such as systematic
genocide, terrorism, and war crimes. Example The skeletal remains of U.S. soldiers and
civilians from World War II, the Korean War, the Vietnam War, and other military
actions have been recovered and identified by group of anthropologists.
• Personal identification for resolving paternity disputes or crimes or missing person or
forgery or impersonation (using genetics)
• Cause of death and duration time since.
• Facial Reconstruction
• Forensic anthropologists have also contributed substantially to the investigation of
human rights abuses in all parts of the world by identifying victims and documenting
the cause of their death. Among the best-known forensic anthropologists is Clyde C.
Snow. Some of his work includes 1985 work in

Brazil, where he identified the remains of the
notorious Nazi war criminal Josef Mengele.
He was also instrumental in establishing the
first forensic team devoted to documenting
cases of human rights abuses around the
world. This began in 1984 when he went to
Argentina at the request of a newly elected
civilian government to help with the
identification of remains of the Figure: Forensic anthropologists use skeletal remains
desaparecidos, or “disappeared ones,” the to identify victims of war in Bosnia.
9,000 or more people who were eliminated
by death squads during seven years of military rule. Today forensic anthropologists
have become increasingly involved in the investigation of human rights abuses in all
parts of the world
‘They give Voices for the Dead’

Forensic anthropologists in these areas work for both government and private groups such
as Physicians for Human Rights, the International Commission for Missing Persons, and the
United Nations (UN).
Identification of Individual:
• These specialists use details of skeletal anatomy to establish the age, sex, population
affiliation, and stature of the deceased.
• Forensic anthropologists can also determine whether the person was right- or left-
handed, exhibited any physical abnormalities, or had experienced trauma.
• While forensics relies upon differing frequencies of certain skeletal characteristics to
establish population affiliation, it is nevertheless false to say that all people from a
given population have a particular type of skeleton.
• The first step in a potential forensic investigation is to determine if the remains are
human or nonhuman. (Human teeth, cranium, Linea aspera on femur or chemical
analysis of bone ash etc can be used)
• If they are human it is then necessary to ascertain if they are of recent origin.
• A skeletal analysis initially begins with establishing a biological profile of the person
whose remains are under investigation. This involves the estimation of the person’s
sex, age at death, ancestry, and living height (stature). These characteristics aid in
narrowing down the pool of missing persons to consider for comparison.
• A positive identification of an unknown individual can be made through comparisons
of antemortem (conditions that affected the skeleton during life) records, such as
medical and dental x-rays, with unique biological characteristics observed on the
skeleton. These may include

How can we know the sex of the individual from the
genetic anomalies, such as unusual skeletal remains?
or atypical skeletal or dental Female pelvis when compared with male have:
features, or pathological 1. Light bones
conditions, such as bone infections 2. More shallow and rounded.
or healed fractures. 3. More room for passage of baby
4. Rectangular public (male- triangle)
• Multiple points of similarity 5. Large and straight sacrum
between antemortem and post- 6. greater sciatic notch angle > 680 in female.
mortem records (i.e., information
How can we ascertain the age of individual from
collected on the deceased skeletal remains?
individual) can then help to
By knowing the Skeletal change with Age:
establish identity.
• Finally, an analysis involves a 1. From the teeth (Gustafson’s method)
comprehensive assessment of 2. By 25 all epiphyses should be united.
3. 40 yrs – xiphoid process fuses with the sternum
skeletal trauma, usually classified
4. 60 yrs- manubrium fuses with sternum from
as blunt- force, sharp-force, or above
projectile trauma. Forensic 5. Hardening of the intervertebral discs between
anthropologists carefully 40-45 yrs
document trauma that occurred at 6. 65-70 laryngeal and costal cartilage ossify.
or around the time of death

(perimortem trauma) to provide
investigators with information regarding the circumstances of death.
• They also study postmortem alterations, such as damage to bone caused by exposure
to the sun or by scavenging animals. It is critical to be able to differentiate this damage
from trauma caused by interpersonal violence.
• Ultimately, forensic anthropologists provide services that may help to resolve a case
and provide closure to families. They are sometimes called into court as expert
witnesses to testify regarding the identity of an individual and to describe traumatic
injuries identified on skeletal remains that may pertain to the cause and manner of
death.
Facial reconstruction and superimposition:

Facial reconstruction implies that the soft tissues of the face are reconstructed on the victims skull
by a trained sculptor on the suggestions of a competent anthropologists.
3 main aspects
✓ Compare of skull with portrait of presumed decreased.
✓ Compare of skull with photo of presumed decreased.
✓ Actual restoration of head from skull.
2 Approach:
1. Reconstruction of soft parts, with clay/2d: Reconstruction of Soft parts of unknown as
supposed to have looked in the life, either directly by means of 2d portrait/directly by clay.
Does not always guarantee a precise picture, but anthropologists can provide relevant
descriptions about an individuals physiognomy by explaining anatomic characters – nasal
profile, shape of chin etc
2. Superimpose with outline of skull and picture: Superimposition is comparison of skull of an
unknown with a picture of a suspect made in life by superimposition of an outline of skull,
suitably scaled and oriented on an outline of the picture. Issue with this method → depends
on the quality of photo, cammera- subject distance, positioning, ageing etc. Methods:
a. comparison of facial morphology
b. Photographic anthropometry
c. Photo to Photo video superimposition.
Recently – 19th century Venezuelan freedom fighter Simon bolivars 3D portrait was made
using reconstruction technology.
Figure: Anthropologist reconstructing the face of the Ice Man. Began with measurements, computer
images, X-rays, and CAT scans and produced a model of the Ice Man’s skull. Next, added clay, rebuilt
the face, using anatomical data
Methods and principles of personal identification:
Alive Person Dead Person

Identification from Blood stain* Identification from the morphological &
Identification from finger prints racial character
DNA finger printing Identification through skeletal remains
DNA Finger printing from skeletal remains
Identification from Blood stains:

(1) Blood: Precipitin test: human/ non-human
(2) Blood group determination-
- Antibody determination
- Antigen determination: Absorption inhibition and absorption elution
Applied Human Genetics

Paternity diagnosis / Parentage Determination
Means maternity and paternity determination based on the parentage determination tests
and delivery of judgement by a court of law.
Why:
1. Theft /exchange of New borns in maternity hospitals.
2. Instances of rape in which the victim become pregnant
3. Illicit and extra marital relationship of wifes on the basis of which husband seeks
divorce.
Methods:
1. Presence of rare alleles in alleged father
2. Similarity of many morphological, morphometric and dermatographic characters.
3. Genetic tests- DNA finger printing
Limitation:
1. A rare allele may be present in the near relatives of accused also
2. Morphological, morphometric and dermatoglyphic character are determined by
polgenes and polygenic inheritance is much variable.
3. Every child inherits only 50% of characteristics from each parents and hence it can
differ from its parents in many of the character
4. Similarity seen among identical twins
Hence it is necessary to evaluate the child on the basis of different criteria and final coefficient
of probability should be calculated by taking the sum of probability of each characteristic.
Methods of parental determination:

1. Morphological analysis:
▪ This consists of morphoscopic and morphometric characters

▪ Morphoscopic – size, shape, hair, eye, nose, etc (which can be viewed)
▪ Morphometric: variation in head index, face index, nasal index,
▪ These traits are determined by alleles and hence their similarity indicate common
origin.
▪ Greater number of similarity- greater proof of parenthood
2. Dermatoglyphic analysis:
▪ Study of the ridge patterns of the skin of the fingers, palms, toes and soles –
▪ Unchanged and permanent throughout life.

▪ There pattern are hereditary and hence does not change with time and environment
▪ Main line formula, palmar ridge counts, finger ridge count etc are used in paternity
diagnosis.
▪ However the paternity cannot be proved through only finger print patterns. It can be
only supplement other methods
3. Genetic Analysis:
▪ DNA finger printing

▪ Serological Analysis- different blood group systems like ABO, Rh, MNSs system are
used.
▪ Biochemical Analysis- Analysis of wide variety of proteins and enzymes present in
blood. As these are nothing but gene products and there genes are mostly inherited
in mendelian fashion from parents. Haemoglobin, Haptoglobin, Adenylate kinase are
some of the protein used in paternity tests.
▪ Immunological Analysis: Gm, Am, HLA and other Systems are used in this analysis.
▪ Non serological Criteria: Rolling (uttered with a trill) ability and taste ability.
▪ Chromosomal Analysis: Chromosomes often undergo various structural and numerical
variations and presence or absence of such chromosome variation are good indicator
of paternity.
Eugenics:
Eugenics deals with the application of the laws of genetics to the improvement of human
race. (Francis Galton 1885).
Science of eugenics is defined as a science of well born, improving the inborn qualities of race
and obtaining the better heritage by judicious breeding. It believes in artificial selection of
physically and mentally sound individuals and discouragement of defective individuals for
the inheritance of their defective germplasm to the future generation ie conscious effort to
improve the quality of genetic stock.
Eugenics predicates genetic theory. It was applied successfully to animal breeding. Great
philosopher plato suggested that the best of both sexes ought to be brought together as
often as possible and worst as seldom as possible.
The concept developed due to the neo- Darwinian movement and the effort of Nazi to protect
and preserve their genetic stock. The absence of positive and desirable genotype, cannot be
corrected in the best of the environment, hence engines prescribes to understand the
possibility of (preventing) occurrence of negative aspects and either to stop them from
occurring or making an effort to correct the negative aspect.
Such approach is generally accepted in control of disease that are genetically

transmitted, but its application and consideration on other aspect like skin colour, IQ, stature
etc is criticised. Frans Boas criticised Eugenics for giving rise to racism and increasing the gap
between the haver and have not.
Positive Eugenics: Enhancement of desirable traits.

(1) Assorted mating – Both positive and negative (+ve: Promoting mating between
certain type; -ve: prevent mating between certain) Ex: Nazis – encourage mating
among their own race. Ancient times- Royal society – Greek, Romans, Inca- promoted
inbreeding among royals
(2) Artificial insemination.
(3) Cloning
(4) Genetic counselling
(5) Removal of social hindrances (in India- Majumdar Recommended inter-caste marriage
to improve genetic features)
(6) Consanguineous marriage:- - bring together genetic stock of good quality : ( may also
express recessive gene- hence overall reduce the fitness)
(7) Gene therapy
Euthenics: Improvement of
Negative Eugenics: It involves elimination of deleterious already existing human being
genes: can be achieved by
improving the environment
1. Regulation of marriage (prevent marriage of
condition ex- Education,
certain carrier individual)
nutrition.
2. Sterilization
3. Termination of pregnancy
4. Controlled immigration
Ethical concern:
A reduction in variability of gene pool due to encouragement of mating in assortative mating.
Give rise to Biological elite and Racism.
* Reduces of genetic variability in population.
DNA technology in Disease and Medicine:

DNA Technology contribute in all 3 spheres of medicine → prevention, diagnosis and
treatment
1. DNA probe: DNA probes are short segments of DNA that recognize complementary
sequences in DNA and thus allow identification of specific DNA sequence used in
diagnosis. Ex: Identification of specific parasite, viruses etc. DNA sequence of these
organism have been identified and complementary sequence (DNA) is used in
diagnosis.
2. Gene Therapy – Explained below
3. Production of Hormones and proteins: using DNA technology, genes responsible for
their production can be introduced into bacteria which can act as vectors. These
genetically altered bacteria can be used to produce greater amounts of these
substance.
4. Production of vaccine
(a) Synthetic vaccines are produced by separation of antigens using mono-clonal
antibodies. Monoclonal antibodies are specific antibodies produced by
lymphocytes when they hybridize with the concerned cell. The resulting hybridoma
can synthesize antibodies continuously. Such antibodies can be used for diagnosis,
therapy, prevention and also production of vaccine.
(b) Transfer genes for certain antigen into bacteria → bacteria produce antibodies →
used for vaccines.
5. Genetic Screening: Explained in chapter 5
Gene Therapy:
Gene therapy includes Replacement of a deficient gene product (protein/ enzyme) (or)
correct the abnormal gene.
▪ Most genetic disorder is difficult to cure because- either the underlying gene or the
underlying defective product have not been identified.
▪ In cases were enzyme deficiency causing metabolic disorder is identified, simple
enzyme transfer may not always he possible, because appropriate delivery system at
target cell may be defective.
▪ Advent of recombinant DAN technology- has helped in the synthesis of number of
gene product. Ex: Artificially produced Human insulin gene, inserted into plasmid and
cloned in E-Coli. Thus large quantity of insulin can now be prodced and be made
available.
▪ Various types of Vectors can be used to deliver the gene or gene product
✓ viral – retroviruses, Adenovirus
✓ Physical delivery → Micro injection or by direct application of DNA coated

gene gun. Ex: Cystic fibrosis- defect in cystic fibrosis transmembrane regulator gene
(CFTR) in chromosome 7 → Direct application of CFTR to bronchial epithelium has
shown positive result. Recent experiments have used gene therapy on mice and
rats to increase levels of IGF-1, a protein that promotes muscle growth and repair,
resulting in bigger, stronger rodents
Issues:
1. Short lived
2. Might develop immune response
3. Problems with viral vector like toxicity, virulence and immune response.
4. Multi gene disorders- its not useful. Ethical concerns (with germ cell line. Hence today only
somatic cell gene therapy is allowed; Germ cell line not accepted)
5. Costly.
6. Not all underlying gene or gene product is known → cannot be used to cure all genetic
disorder
7. Appropriate delivery system at target cell may ne defective even if enzymes present.
Serogenetics and cytogenetics in Reproductive Biology
Serology:
▪ Serogenetics is branch of genetics that is concerned with study of serological
proteins.
▪ Serogenetics of male and female reproductive biology (physiology) means the study
of serum harmones which regulate the formation of germ cells.(gonadotropins-
FSH,LH,HCG and sex harmones - Testosterone, estrogen and progesterone)
▪ It studies of genetic basis of traits through the study of protein polymorphism in
serum (the protein component of blood)
▪ The basic principle: Separate proteins → determine its amino acid composition →
identify the DNA. So it is possible to study DNA indirectly by studying variation in the
amino acid composition of these protein;
▪ Hence by studying the protein and the amino sequence we can identify genetic
abnormality and genetic disease. We can also learn about the disease, the reason
behind it which can cause variation among population living in different areas, also
in between the population of same area, causes of syndromes, chromosomal
aberrations etc.
▪ All this knowledge will be useful in improving reproductive health
Cytogenetics:
▪ Cytogenetics is a branch of genetics that is concerned with the study of the structure
and function of the cell...cytogenetics of male and female reproductive biology
(physiology) means study of the structure and functions of the cells related to
reproductive activity -- in male : sertoli cells,leydig cells and sperm(germ cell);in
female : follicular cell (primordial follicle to ova -- female reproductive cycle)
▪ It also analyzes the number and structure of human chromosomes, Changes that
affect the number of chromosomes, problems associated with it
▪ Abnormality in reproductive cell can affect growth and development. Further the
Chromosomal abnormalities in reproductive cell can happen when egg and sperm
cells are being made during early fetal development or after birth in any cell in the
body. These changes can disrupt genes, causing the proteins made to be missing or
faulty which can lead to birth defects, syndromes or even cancer and possibly some
can have no effect at all.
▪ Cytogenetic analyses are commonly performed during pregnancy to determine if a
fetus is at risk for common syndromes or if it has any extra or missing genetic material
is there and same test can be performed on a newborn or child with development
delays to look for a potential chromosomal abnormality, helping in proper
development of the child

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BLOOD GROUP AS GENETIC MARKER ........................................................................................................... 131

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ASSESSMENT OF NUTRITIONAL STATUS ........................................................................................................ 227

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1. Biological anthropology, Cultural anthropology: A subfield of

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Paleoanthropology: the study of anatomical and behavioral human evolution as

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certain infectious diseases (such as syphilis and tuberculosis), nutritional deficiencies,

Q. Meaning and scope of Biological (Physical) Anthropology

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Terms and General Concepts

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Methods for study of Genetic Principles

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A pedigree is a chart of the genetic history of a family over several generations

Determining X-Linked Inheritance

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If a female shows a trait, so

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First lets understand about twins:

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Dizygotic twins/Fraternal twins:-

Analysis- How it is used to understand genetic principle?

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(iii) Diamniotic mono chorionic

Concordance and Discordance:(Important)

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Issues with Twin study:

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3. Complex characters, such as intelligence & behaviour, are not independently

FOSTER CHILD METHOD:

It is another method to analyse the influence of heredity and environment in the

Osborne in 1951 gave following requirement while using this technology:-

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Case study of Schizophrenia

Cytogenesis is the study of Chromosomes & the

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What the various method to study Chromosomes:

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Understanding Genetic linkages and mapping

• In general, organisms have a lot more genes than chromosomes.

3. In-situ hybridization with DNA probes:

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(4) Karyotyping/Idiogram: Karyotype is a