 Branch of biology that deals with the principles of

heredity and variation

– Describes similarities and differences among
organisms (variation)
– Explains the way in which these characteristics
are transmitted through successive generations
(heredity)
 Science that deals with the study of structure,
organization, transmission and function of genes and
the origin of variation
– Cytogenetics is the study various aspects of
chromosomes and their effects on the
development of characters in organisms
 cells – behavior of the chromosomes
 individuals – the way in which genes present on them
are transmitted from one generation to the next
– Their offspring
 population with which the organism lives
1. Transmission genetics/ Classical genetics
 Encompasses the basic principles of genetics and how traits are passed from one generation to the next.
 This area addresses the relation between chromosomes and heredity, the arrangement of genes on
chromosomes, and gene mapping.
 Here the focus is on the individual organism —how an individual organism inherits its genetic makeup and how
it passes its genes to the next generation.
 Variation is a basic quality of the living organisms
 Environmental conditions are rarely constant in relation to time and place
 Living organisms must be able to adapt to these changes to survive
 Variation provides the raw materials for this adaptation and evolution to natural selection
 Classical investigative approach in which heredity and variation is studied
 Various observable features by which we recognize an organism constitute its phenotype.
 Appearance or discernable or measurable characteristics or distinctive trait of an organism. The trait
possessed may be visible to the eye or it may require special test for identification
 Genetic make-up or a constitution of the individual with reference to the traits under consideration is its
genotype
 Classification of observable features or phenotypes

 1. Morphological or structural traits

 It may be molecular, sub-cellular or gross anatomical features
 Ex.1 Shape of the face, eyes and ears, etc.
 Ex. 2 glycoproteins in cell membrane- acceptability of a particular organ to the recipient of
organ transplantation
 Ex. 3 color of the flowers, leaves
 2. Physiological
 Results in biochemical and biophysical processes
 Functional traits
 Ex. inability to synthesize certain amino acids by fungibacteria due to enzymatic effects
 Ex. failure to perform photosynthesis due to absence of chlorophyll in some plants
 Ex. inability to absorb glucose due to absence of insulin among diabetics
 Ex. The rate at which a bacterium can metabolize the sugar lactose
 3. Behavioral
 A combined structural and physiological characteristics which determines the pattern of reactions of an
organism to the environment
 Ex. mental retardation – PKU, phenylketonuria due to absence of phenylalanine hydroxylase
necessary to convert phenylalanine to tyrosine
 Ex. high I.Q or mongoloids or idiots
 4. Sexual traits - The capacity for reproduction together with the features associated with it.
A. primary sexual traits – sexually determined at the time of fertilization ex. differences in genitalia and gonads
B. secondary- hormonally determined at the time of fertilization, non-sexual but related to mating or rearing of
youngs
ex. Males of lower forms of animals like arthropods tend to be smaller
ex. Males of most birds have brighter color and more elaborate plumage
ex. Pattern of fat deposition, hair distribution and pitch of voice may vary with human males and females
2. Molecular genetics
 Molecular genetics
 – Seeks a biochemical
understanding of the
hereditary material
 DNA’s molecular features
 gene expression
– Interfaces with numerous other disciplines
 Biochemistry, biophysics, cell biology, etc.
-Molecular geneticists study “model organisms
Most work is done on a few model organisms
S. cerevisiae
Arabidopsis thaliana
Escherichia coli
Drosophila melanogaster

3. Population genetics/ Evolutionary genetics

 explores the genetic composition of groups of
individual members of the same species
(populations) and how that composition
changes over time and space.
 Because evolution is genetic change,
population genetics is fundamentally the
study of evolution.
 The focus of population genetics is the group
of genes found in a population.
 Concerned with genetic variation and its role
in evolution
Links the fields of classical genetics and evolutionary
biology

Cytogenetics
 Advances in cell culture techniques
 Development of differential stains
 Improvement in the resolving power of the microscopes that allow detailed investigation in the number, kind of
banding pattern and size of chromosomes of many plant and animal species
 It also provided the chromosomal basis of sex determination and thus helped explain the observed distribution
of boys and girls among families with different number of offspring.
Applied genetics
 Epidemiological genetics
– health workers must understand the inheritance of diseases and abnormal characteristics for better
therapy, management and even prevention of recurrence
 Eugenics- involves application of principles of genetics for the improvement of the human race and the quality
of life
– every individual should consider genetic aspects in the choice of their partners for marriage and have
the estimate of likelihood of appearance of desirable or undesirable traits in their children
 Medico-legal Genetics
– Medico-legal questions can at times be answered with genetic information like knowledge of blood
groups and histo-compatibility tests.
– Examples:
 Establishment of paternity,
 exchange of babies in the nursery of hospitals,
 real estate inheritance cases
 Genetic counseling
– Chromosomal analysis of cells obtained with amniotic fluid of pregnant mothers (amniocentesis) allows
early prediction of the sex of fetus, presence of chromosomal aberrations and other abnormalities
 Genetic toxicology
study the consequences of genotoxic effects in humans and mammals caused by different genotoxic agents like
cigarette, marijuana smoking, drinking water, water systems, airborne agents, mutagens, carcinogens in foods,
pesticides
 Recombinant DNA technology play an essential role in human genetic engineering which involves direct
manipulation of genetic materials. The application of genetic engineering is broadly called biotechnology
Investigative approaches in genetics
 Study of transmission genetics, the most classical approach in which patterns of inheritance are examined.
 The 2nd approach involves cytological investigations of the genetic material
  The 3rd general approach, molecular and biochemical analysis- had the greatest impact on the growth of genetic
information
 The final approach involves the study of the genetic structure of the populations

Significance of Genetics in Society

Humans first applied genetics to the domestication of plants and animals between approximately10,000 and 12,000
years ago. This domestication led to the development of agriculture and fixed human settlements
The use of selective breeding and hybridization techniques has had the most important significant impact
In plants 4 major categories of improvements have been possible:
– More efficient energy utilization during photosynthesis, resulting in more vigorous growth and increased
yields
– Increase resistance to natural predators and pests and disease-causing microorganisms
– Production of hybrids exhibiting a combination of superior traits derived from 2 different strains or even
2 different species
– Selection of genetic variants with increased content of limiting amino acids that are essential in human
diet
– Similarly, applied research in genetics has developed superior breeds in animals
– Fungi and bacteria have also been specially bred for human needs
– Ex. Yeast forms the basis of multi billion industries producing baked goods, alcoholic beverages and fuel
alcohol.
– Ex. Fungi provide the antibiotic penicillin, the immunosuppressant drug cyclosporin that prevents the
rejection of organ transplants and a whole range of industrial compounds such as citric acid and amylase
– Genetic counseling- provide parents with objective information upon which they can base rational decisions
about parenting
– A large portion of human ill health has a genetic basis
– Immuno-genetics – has made possible compatible blood transfusions as well as organ transplants
– The discovery of tissue-bound antigens has led to the important concepts of histo-compatibility and tissue
typing
– Recombinant DNA technology play an essential role in human genetic engineering which involves direct
manipulation of genetic materials. The application of genetic engineering is broadly called biotechnology
– Inherited diseases - caused by abnormal forms of genes that are passed on from one generation to the next
– Somatic disease - caused by the sudden appearance of an abnormal form of a gene in one part of the body
– Chromosomal aberrations - caused by abnormalities of chromosome structure or number
– Basic genetic research extends our knowledge of the discipline
– Applied genetic research- solve problems affecting members of our species
Characteristics of Useful experimental organisms
 Variation –organism must show a detectable differences. If organisms are alike nothing will be learned about
inheritance
 System of recombination (sexual reproduction)
– Genetic analysis is facilitated if there exists effective means of combining in one individual the traits of 2
parents
– This is best accomplished if the method of reproduction is sexual
– Such expression permits comparison of one expression of a character with another expression of the
same trait
 Asexual or vegetative reproduction cannot furnish recombinational information
 Controlled mating
– Systematic study is far easier if it is possible to control mating by choosing parental lines with particular
purpose in mind
 Short life cycle
– Acquisition results of mating is facilitated if the organism chosen requires only a short time between
generations
 Large number of offspring
– the larger the number of the progeny, the grater the likelihood of detecting rare event
 Convenience of handling
– For practical reasons, an experimental species should be a type that can be raised and maintained
conveniently and relatively inexpensively
 Test organisms must require the minimum of space, food and time of caring.

By CFC21