Overview of Genetics

Prof. Innocent Edagha, PhD

Fulbright Fellow, New York University
Dept of Human Anatomy, MUSOM
 Comprehensive Outline (highlights on focus)
• Terminologies
• I. Introduction to Genetics A. Definition of Genetics B. Historical Overview C. Importance of Genetics in
Medicine
• II. Basic Concepts in Genetics A. Genes and Chromosomes 1. Structure of DNA 2. Chromosome Organization
B. Central Dogma of Molecular Biology 1. DNA Replication 2. Transcription 3. Translation C. Mendelian
Genetics 1. Mendel's Laws 2. Punnett Squares 3. Inheritance Patterns D. Genetic Variation 1. Types of
Genetic Variation 2. Genetic Mutations 3. Allelic Heterogeneity
• III. Molecular Basis of Inheritance A. DNA Mutations 1. Types of Mutations 2. Effects of Mutations B. Genetic
Mapping 1. Linkage Analysis 2. Recombination Frequency C. Human Genome Project 1. Goals and
Achievements 2. Implications for Medicine
• IV. Genetic Disorders A. Single Gene Disorders 1. Autosomal Dominant Disorders 2. Autosomal Recessive
Disorders 3. X-linked Disorders B. Complex Genetic Disorders 1. Polygenic Inheritance 2. Multifactorial
Inheritance C. Chromosomal Disorders 1. Aneuploidy 2. Structural Chromosomal Abnormalities
• V. Genetic Testing and Counseling A. Types of Genetic Testing 1. Diagnostic Testing 2. Carrier Screening 3.
Predictive Testing B. Ethical Considerations 1. Informed Consent 2. Privacy and Confidentiality C. Genetic
Counseling Process 1. Pre-test Counseling 2. Post-test Counseling
• VI. Pharmacogenetics and Personalized Medicine A. Basics of Pharmacogenetics 1. Genetic Variation in Drug
Response 2. Pharmacogenomic Testing B. Clinical Applications 1. Drug Dosage Optimization 2. Drug
Selection and Efficacy C. Challenges and Future Directions
• VII. Emerging Topics in Genetics A. Epigenetics 1. Mechanisms of Epigenetic Regulation 2. Epigenetic
Inheritance B. Gene Therapy 1. Principles of Gene Therapy 2. Clinical Applications and Challenges C.
Genomic Medicine 1. Integration of Genomics into Clinical Practice 2. Future Perspectives
• VIII. Conclusion A. Recap of Key Concepts B. Importance of Genetics in Medicine C. Future Directions in
 Introduction to Genetics
• Genetics is the branch of biology concerned with the
study of inheritance, including the interplay of genes,
DNA variation and their interactions with
environmental factors.
• Genetics is the study of how genes and how traits are
passed down from one generation to the next.
• Our genes carry information that affects our health, our
appearance, and even our personality!
• Genes—through the proteins they encode —determine how
efficiently foods and chemicals are metabolized, how
effectively toxins are detoxified, and how vigorously infections
are targeted.
• Genetic diseases can be categorized into three major
groups: single-gene, chromosomal, and multifactorial.
 What is Genetics?
• Genetics is the branch of biology that deals with the
study of heredity and its biological process. It also
involves the study of genes, genomes and the cell
cycle.

• Genetics is termed as the study to understand

the functioning of inheritance of traits from
parents to offspring. The groundwork on which
heredity stands is known as inheritance. It is defined
as the procedure by which characteristics are handed
down from one generation to the other.
• Genetics is the science which deals with the
mechanisms responsible for similarities and
differences among closely related species.

• The term ‘genetic’ was coined by William

Bateson in 1905.

• It is derived from the Greek word ‘genesis’

meaning grow into or to become.

• So, genetics is the study of heredity and hereditary

variations, it is the study of the transmission of body
features: i.e., similarities and difference, from parents
The impact of gene manipulation on the
practice of medicine.
 Importance of Genetics
1.Understanding Human Health and Disease: Genetics provides insights into
the underlying causes of various diseases, including genetic disorders, cancer,
cardiovascular diseases, and neurological conditions. By studying genetic
mutations and variations, researchers can develop better diagnostic methods,
treatments, and preventive strategies.
2. Precision Medicine: Genetics allows for personalized approaches to
healthcare, known as precision medicine. By analyzing an individual's genetic
makeup, healthcare providers can tailor treatments and medications to the
patient's unique genetic profile, leading to more effective and safer
interventions.
3. Inheritance and Evolution: Genetics is fundamental to understanding how
traits are passed from one generation to another and how species evolve over
time. By studying genetic variation and inheritance patterns, scientists can
elucidate the mechanisms of evolution and the genetic basis of adaptation.
4. Crop Improvement and Agriculture: Genetics plays a crucial role in crop
breeding and agricultural practices. By understanding the genetic basis of
desirable traits such as yield, disease resistance, and nutritional content,
researchers can develop improved crop varieties that are more productive,
resilient, and nutritious.
5. Animal Breeding and Livestock Management: Genetics is essential in animal
breeding programs aimed at producing livestock with desired characteristics such as
meat quality, milk production, and disease resistance. By selecting animals with
favorable genetic traits, breeders can enhance the productivity and profitability of
livestock farming.
6. Forensic Science: Genetics is used in forensic DNA analysis to identify individuals
based on their genetic profiles. DNA profiling techniques such as DNA fingerprinting and
DNA sequencing are instrumental in criminal investigations, paternity testing, and
identifying human remains.
7. Conservation Biology: Genetics plays a critical role in conservation efforts aimed at
preserving endangered species and biodiversity. By studying genetic diversity and
population genetics, conservationists can develop strategies for managing small
populations, preventing inbreeding, and restoring genetic variability in threatened
species.
8. Biotechnology and Genetic Engineering: Genetics forms the foundation of
biotechnology and genetic engineering, which involve manipulating the genetic material
of organisms for various purposes. Applications include the production of recombinant
proteins, gene therapy, genetically modified crops, and synthetic biology.
9. Ethical, Legal, and Social Implications (ELSI): As genetics advances, it raises
important ethical, legal, and social questions related to privacy, consent, genetic
discrimination, and equitable access to genetic technologies. Understanding these
implications is essential for developing responsible policies and practices in healthcare
 Cells, Genomes, DNA, and Genes
• Cells are the fundamental working units of every living system.
• All the instructions needed to direct their activities are contained within a DNA
(deoxyribonucleic acid) sequence.
• DNA from all organisms is made up of the same chemical units (base
pairs) abbreviated as A, T, C, and G.
• The human genome (total composition of genetic material within a cell) is
packaged into larger units known as chromosomes—physically separate molecules
that range in length from about 50 million to 250 million base pairs.
• Human cells contain two sets of chromosomes, one set inherited from each parent.
• Each cell, except sperm and eggs, contains 23 pairs of chromosomes—22
autosomes (numbered 1 through 22) and one pair of sex chromosomes XX or XY).
• Sperm and eggs contain half as much genetic material (e.g., only one copy of each
chromosome).
• Each chromosome contains many genes, the basic physical and functional units of
heredity.
• Genes are specific sequences of bases that encode instructions on how
to make proteins.
• What is DNA? - DNA is a group of molecules that is responsible for
carrying and transmitting the hereditary materials or the genetic
instructions from parents to offsprings.”
• This is also true for viruses, as most of these entities have either RNA or
DNA as their genetic material.
• For instance, some viruses may have RNA as their genetic material, while
others have DNA as the genetic material. The Human Immunodeficiency
Virus (HIV) contains RNA, which is then converted into DNA after attaching
itself to the host cell.
• Apart from being responsible for the inheritance of genetic information in all
living beings, DNA also plays a crucial role in the production of proteins.
• Nuclear DNA is the DNA contained within the nucleus of every cell in a
eukaryotic organism. It codes for the majority of the organism’s genomes
while the mitochondrial DNA and plastid DNA handles the rest.
• The DNA present in the mitochondria of the cell is termed mitochondrial
DNA. It is inherited from the mother to the child.
• In humans, there are approximately 16,000 base pairs of mitochondrial DNA.
Similarly, plastids have their own DNA, and they play an essential role in
photosynthesis.
 Full-Form of DNA
• DNA is known as Deoxyribonucleic Acid. It is an organic
compound that has a unique molecular structure. It is
found in all prokaryotic cells and eukaryotic cells.
DNA Types
• There are three different DNA types:
• A-DNA: It is a right-handed double helix similar to the B-
DNA form. Dehydrated DNA takes an A form that protects
the DNA during extreme conditions such as desiccation.
Protein binding also removes the solvent from DNA, and
the DNA takes an A form.
• B-DNA: This is the most common DNA conformation and
is a right-handed helix. The majority of DNA has a B type
conformation under normal physiological conditions.
 Who Discovered DNA?
• DNA was first recognized and identified by the Swiss biologist Johannes
Friedrich Miescher in 1869 during his research on white blood cells.

• The double helix structure of a DNA molecule was later

discovered through the experimental data by James Watson and
Francis Crick.

• Finally, it was proved that DNA is responsible for storing genetic

information in living organisms.

DNA Diagram
• The following diagram explains the DNA structure representing the
different parts of the DNA.
• DNA comprises a sugar-phosphate backbone and the nucleotide bases
(guanine, cytosine, adenine and thymine).
 DNA Structure
• The DNA structure can be thought of as a twisted ladder.
This structure is described as a double-helix, as illustrated
in the figure above.
• It is a nucleic acid, and all nucleic acids are made up of
nucleotides. The DNA molecule is composed of units
called nucleotides, and each nucleotide is composed of
three different components such as sugar, phosphate
groups and nitrogen bases.
• The basic building blocks of DNA are nucleotides, which are
composed of a sugar group, a phosphate group, and a
nitrogen base.
• The sugar and phosphate groups link the nucleotides
together to form each strand of DNA. Adenine (A), Thymine
• Among the three components of DNA structure, sugar is
the one which forms the backbone of the DNA molecule.
It is also called deoxyribose. The nitrogenous bases of
the opposite strands form hydrogen bonds, forming a
ladder-like structure.
• The DNA molecule consists of 4 nitrogen bases, namely
adenine (A), thymine (T), cytosine (C) and Guanine (G),
which ultimately form the structure of a nucleotide.
• The A and G are purines, and the C and T are
pyrimidines.
• The two strands of DNA run in opposite directions. These
strands are held together by the hydrogen bond that is
present between the two complementary bases. The
strands are helically twisted, where each strand forms a
right-handed coil, and ten nucleotides make up a single
turn.
• The pitch of each helix is 3.4 nm. Hence, the distance
between two consecutive base pairs (i.e., hydrogen-
bonded bases of the opposite strands) is 0.34 nm.
 Purines and Pyrimidines
• Purines and pyrimidines are both organic compounds that take
part in the synthesis of DNA and RNA, therefore they are called as
the building blocks of the genetic material – DNA and RNA.
• They are nitrogenous bases that make up the two different
nucleotides in DNA and RNA.
• Purines (adenine and guanine) are two-carbon nitrogen ring
bases while pyrimidines (cytosine and thymine) are one-carbon
nitrogen ring bases.
• Given below in a tabular column are the differences between
Purines and Pyrimidines.
• Both purine and pyrimidine have similar functions.
• They are vital for the production of DNA and RNA, starch and
proteins.
• They also serve as a form of energy for cells. They regulate
 Chargaff’s Rule
• Erwin Chargaff, a biochemist, discovered that the
number of nitrogenous bases in the DNA was present
in equal quantities.
• The amount of A is equal to T, whereas the amount of C
is equal to G.
A=T; C=G
• In other words, the DNA of any cell from any organism
should have a 1:1 ratio of purine and pyrimidine bases.

DNA Replication
• DNA replication is an important process that occurs
during cell division. It is also known as semi-conservative
 DNA replication takes place in three stages:
• Step 1: Initiation
• The replication of DNA begins at a point known as the origin
of replication. The two DNA strands are separated by the
DNA helicase. This forms the replication fork.
• Step 2: Elongation
• DNA polymerase III reads the nucleotides on the template
strand and makes a new strand by adding complementary
nucleotides one after the other. For eg., if it reads an Adenine
on the template strand, it will add a Thymine on the
complementary strand.
• While adding nucleotides to the lagging strand, gaps are
formed between the strands. These gaps are known as
Okazaki fragments. These gaps or nicks are sealed by ligase.
 DNA Function
• DNA is the genetic material which car­ries all the hereditary information.
• Genes are the small segments of DNA, consisting mostly of 250 – 2
million base pairs. A gene code for a polypeptide molecule, where
three nitrogenous bases sequence stands for one amino acid.
• Polypeptide chains are further folded in secondary, tertiary and quaternary
structures to form different proteins. As every organism contains many genes
in its DNA, different types of proteins can be formed. Proteins are the main
functional and structural molecules in most organisms. Apart from storing
genetic information, DNA is involved in:
• Replication process: Transferring the genetic information from one cell to its
daughters and from one generation to the next and equal distribution of DNA
during the cell division
• Mutations: The changes which occur in the DNA sequences
• Transcription
• Cellular Metabolism
• DNA Fingerprinting
• Gene Therapy
 Why DNA is called a Polynucleotide Molecule?

• The DNA is called a polynucleotide because the DNA

molecule is composed of nucleotides –
deoxyadenylate (A) deoxyguanylate (G)
deoxycytidylate (C) and deoxythymidylate
(T), which are combined to create long chains called a
polynucleotide.

• As per the DNA structure, the DNA consists of two chains

of polynucleotides.
• The DNA sequence is the particular side-by-side arrangement of
bases along the DNA strand (e.g., ATTCCGGA).
• Each gene has a unique DNA sequence.
• Genes comprise only about 2% of the human genome; the
remainder consists of non-coding regions, whose functions may
include providing chromosomal structural integrity and regulating
where, when, and in what quantity proteins are made.
• The human genome is estimated to contain 20,000 -
25,000 genes.
• Although each cell contains a full complement of DNA, cells use
genes selectively.
• For example, the genes active in a liver cell differ from genes
active in a brain cell since each cell performs different functions
and therefore requires different proteins.
• Different genes can also be activated during development or in
response to environmental stimuli such as an infection or stress.
 Divisions of Genetics
• Traditionally, the study of genetics has been divided into three major
subdisciplines: transmission genetics, molecular genetics, and population
genetics.
• Also known as classical genetics, transmission 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.
• Molecular genetics concerns the chemical nature of the gene itself: how genetic
information is encoded, replicated, and expressed. It includes the cellular
processes of replication, transcription, and translation—by which genetic
information is transferred from one molecule to another—and gene regulation—
the processes that control the expression of genetic information. The focus in
molecular genetics is the gene—its structure, organization, and function.
• Population 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
• It is convenient and traditional to divide the study of
genetics into these three groups, but we should
recognize that the fields overlap and that each major
subdivision can be further divided into a number of more
specialized fields, such as chromosomal genetics,
biochemical genetics, quantitative genetics, and
so forth.
• Genetics can alternatively be subdivided by organism
(fruit fly, corn, or bacterial genetics), and each of these
organisms can be studied at the level of transmission,
molecular, and population genetics.
• Modern genetics is an extremely broad field,
encompassing many interrelated subdisciplines and
specializations.
 Basic Concepts in Genetics
• Undoubtedly, you learned some genetic principles in other biology
classes. Let’s take a few moments to review some of these
fundamental genetic concepts.
• Cells are of two basic types: eukaryotic and prokaryotic -
Structurally, cells consist of two basic types, although,
evolutionarily, the story is more complex.
• Prokaryotic cells lack a nuclear membrane and possess no
membrane bounded cell organelles, whereas eukaryotic cells are
more complex, possessing a nucleus and membrane bounded
organelles such as chloroplasts and mitochondria.
• A gene is the fundamental unit of heredity - The precise way in
which a gene is defined often varies. At the simplest level, we can
think of a gene as a unit of information that encodes a genetic
characteristic.
• We will enlarge this definition as we learn more about what genes
are and how they function.
• Genes come in multiple forms called alleles - A gene that
specifies a characteristic may exist in several forms, called
alleles.
• For example, a gene for coat color in cats may exist in alleles
that encode either black or orange fur.
• Genes encode phenotypes - One of the most important
concepts in genetics is the distinction between traits and
genes.
• Traits are not inherited directly.
• Rather, genes are inherited and, along with environmental
factors, determine the expression of traits.
• The genetic information that an individual organism possesses
is its genotype; the trait is its phenotype.
• For example, the A blood type is a phenotype; the genetic
information that encodes the blood type A antigen is the
genotype.
• Genetic information is carried in DNA and RNA - Genetic information
is encoded in the molecular structure of nucleic acids, which come in two
types: deoxyribonucleic acid (DNA) and ribonucleic acid (RNA).
• Nucleic acids are polymers consisting of repeating units called nucleotides;
each nucleotide consists of a sugar, a phosphate, and a nitrogenous base.
• The nitrogenous bases in DNA are of four types (abbreviated A, C, G, and
T), and the sequence of these bases encodes genetic information.
• Most organisms carry their genetic information in DNA, but a few viruses
carry it in RNA. The four nitrogenous bases of RNA are abbreviated A, C, G,
and U.
• Genes are located on chromosomes - The vehicles of genetic
information within the cell are chromosomes, which consist of DNA and
associated proteins.
• The cells of each species have a characteristic number of chromosomes;
for example, bacterial cells normally possess a single chromosome; human
cells possess 46; pigeon cells possess 80.
• Each chromosome carries a large number of genes.
• Chromosomes separate through the processes of
mitosis and meiosis- The processes of mitosis and
meiosis ensure that each daughter cell receives a
complete set of an organism’s chromosomes.
• Mitosis is the separation of replicated chromosomes during
the division of somatic (non-sex) cells.
• Meiosis is the pairing and separation of replicated
chromosomes during the division of sex cells to produce
gametes (reproductive cells).
• Genetic information is transferred from DNA to RNA
to protein- Many genes encode traits by specifying the
structure of proteins.
• Genetic information is first transcribed from DNA into RNA,
and then RNA is translated into the amino acid sequence
of a protein.
• Mutations are permanent, heritable changes in
genetic information- Gene mutations affect only the
genetic information of a single gene; chromosome
mutations alter the number or the structure of
chromosomes and therefore usually affect many genes.
• Some traits are affected by multiple factors- Some
traits are influenced by multiple genes that interact in
complex ways with environmental factors.
• Human height, for example, is affected by hundreds of
genes as well as environmental factors such as nutrition.
• Evolution is genetic change- Evolution can be viewed
as a two-step process: first, genetic variation arises and,
second, some genetic variants increase in frequency,
whereas other variants decrease in frequency.
 The Future of Genetics
• The information content of genetics now quadraples every few
years.
• The genome sequences of many organisms are added to DNA
databases every year, and new details about gene structure and
function are continually expanding our knowledge of heredity.
• All of this information provides us with a better understanding of
numerous biological processes and evolutionary relationships.
• The flood of new genetic information requires the continuous
development of sophisticated computer programs to store,
retrieve, compare, and analyze genetic data and has given rise to
the field of bioinformatics, a merging of molecular biology and
computer science.
• In the future, the focus of DNA-sequencing efforts will shift from
the genomes of different species to individual differences within
species.
• It is reasonable to assume that each person may some day
possess a copy of his or her entire genome sequence.
• New genetic microchips that simultaneously analyze thousands
of RNA molecules will provide information about the activity of
thousands of genes in a given cell, allowing a detailed picture of
how cells respond to external signals, environmental stresses,
and disease states.
• The use of genetics in the agricultural, chemical, and health-
care fields will continue to expand; some predict that
biotechnology will be to the twenty-first century what the
electronics industry was to the twentieth century.
• This ever-widening scope of genetics will raise significant
ethical, social, and economic issues.
• History of genetics is not intended to be comprehensive; rather
it is designed to provide a sense of the accelerating pace of
advances in genetics.
Gregor Mendel was the
founder of modern genetics.

Mendel first discovered the

principles of heredity by
crossing different varieties of
pea plants and analyzing the
pattern of transmission of
traits in subsequent
generations. (Hulton/Archive by Getty
Images.
 Heredity
• Do you remember our grandparents telling us that we are
accurately like our father or mother?
• Yes, it is the concept of heredity, the most puzzling
and mysterious phenomenon of nature. No matter how
unique we call ourselves, we happen to be an
accumulation of all the traits we have inherited.
Therefore, bloodline matters and those traits will
travel through you, to the end of time.
• Heredity is normally defined as the method by
which an offspring acquires predisposed
characteristics from its parent cell. It is the process
of transferring genetic traits from parents to their
offspring and is initiated by the recombination and
segregation of genes during cell division and
Heredity contd:
 Inheritance
• Inheritance works differently during sexual and asexual
reproduction.
• For example – When one individual bacterium divides, it
produces two bacteria which again divides and produce four
individual bacterium. The newly generated individuals would
be very much similar to each other and there would be only
minor differences between them due to small errors in DNA
copying. This is the case with asexual reproduction.
• In the case of sexual reproduction, greater variation between
individuals can be observed. Not all these changes in a
species have similar possibilities of surviving in the
environment. Their possibilities mainly depend on the nature
of variations or evolution. Different individuals have different
kinds of advantages.
 Frequently Asked Questions on Heredity
Q1. Give examples of hereditary diseases.
• Down’s syndrome, sickle cell anaemia, turner’s syndrome,
Haemophilia and colour blindness are hereditary diseases.

Q2. Why sexual reproduction produces more variation?

• In sexual reproduction, the chromosomes from both the parents
are mixed resulting in a completely new set of chromosomes. They
also undergo crossing over during gamete formation and thus
each gamete formed is unique. So the progeny has more variation.

Q3. What biomolecules are responsible for heredity?

• The Deoxyribonucleic acid abbreviated as DNA is responsible for
heredity, as it carries coded information from parents to offspring
through the gametes.
 What is Behavioural Genetics?
• Behavioural genetics is the study of genetic and
environmental influences on animal or human behaviour.
• The inheritance of behavioural traits has been studied by the
geneticists.
Methods of Study of Behavioural Genetics
• The effect of genetic and environmental factors on human
behaviour has been studied using quantitative genetic
methods.
• The genes responsible for a particular genetic influence are
observed by molecular genetic methods.
• The research has been carried out on both humans and
animals but the researches on animals have given more
accurate results.
• Behavioural Genetics In Animals
• The siblings were mated for several generations.
• The offsprings obtained were highly similar
genetically.
• The genetic influence on behaviour can also be
observed by comparing the behaviour of different
inbred strains brought up in the same laboratory
environment.
• Selective breeding is another method for selecting
genetic influences.
• In this, organisms with high and low extremes of a
trait are bred for several generations.
• These methods have been applied to a number of
 Behavioural Genetics In Humans
Twin method
• It is used to study the genetic influence on behavioural
differences. The environment and the genes cannot be
controlled or manipulated in humans.
• Monozygotic twins or identical twins are genetically the
same because they come from the single fertilized egg.
They are clones of each other.
• The dizygotic twins that come from different fertilized
eggs are half genetically similar like any other sibling
born at different times.
• With reference to the fact that the behaviour is
influenced by the environmental factors, the dizygotic
• For eg., the risk of one twin being schizophrenic if the
other one is already suffering from the condition is 45%
in monozygotic twins and 15% in dizygotic twins.
• Also, the intelligence assessed by the IQ tests is 0.85 in
monozygotic twins and 0.60 in dizygotic twins.
• However, the twin method was strictly defended.
Adoption method
• This method was also adopted in which the child is
owned and brought up by someone who is not the
biological parent of the child.
• A study proved that children with schizophrenic
biological mothers when adopted far away from their
biological parents had a 10% chance of becoming
schizophrenic compared to the children brought up by
 Criticisms of Behavioural Genetics
• The researches on behavioural genetics have been
controversial at times.
• The researches can challenge beliefs about the nature of
human behaviour and abilities.
• Genetic research on topics such as racial differences,
intelligence, violence, etc. are major areas of
controversies in behavioural genetics.
• There are very little findings on how genetic differences
can lead to differences in IQ, aggression, etc.
• The environment affects the expression of genes.
• It has also been claimed that many mathematical
techniques applied in behavioural genetics cannot be
 Variation
• Any differences present between individuals of any species,
caused either by genetic difference or by the effect of
environmental factors, is called variation. Variation can be
shown in physical appearance, metabolism, behaviour,
learning and mental ability, and other obvious characters.
Types of Variation
• Variations can be categorised into two types:
• Genotypic variations: – Genotypic variations refer to the
differences in the genome, it may be due to structure or
number of chromosomes present in the cells or difference in
the genetic constituents of the chromosomes. Skin, hair, eye
colour, height are some of the genotypic variations in
animals. A variation can only be confirmed as genotypic by
doing cross-breeding experiments.
 Notations used in Breeding Experiments
• The dominant trait – Upper case letter, e.g.
Tallness is represented by ‘T’.

• The recessive trait – Lower case letter, e.g.

Dwarfness by ‘t’.

• Homozygous – A pair of same alleles, e.g. TT

(homozygous dominant) or tt (homozygous
recessive).

• Heterozygous – Having different alleles of a trait,

e.g. Tt
• Variation, as the name suggests is the amount of
dissimilarity that exists between children and their
parentages.
• It can be determined to keep in view the
behaviouristic, cytological, physiological, and
morphological characters of individuals fitting into
similar species.
• Some of the major reasons that variation are
• Genetic/Chromosomal rearrangement.
• Mutated genes due to the influence of the
ecosystem.
• Crossing over.
• GENE
 Law of Inheritance by Gregor Mendel
• Garden Pea (Pisum Sativum) was the plant that
Mendel experimented on for 7 years to get to the
point to propose the laws of inheritance in live
creatures.
• Mendel carefully chose seven distinct characteristics
of Pisum Sativum for the investigation concerning
hybridization.
• Mendel used true-breeding lines i.e. those that go
through constant self-pollination and display steady
characteristic inheritance.
 Principles of Inheritance
• When Mendel observed the monohybrid cross he
proposed two laws of inheritance-
• Law of Dominance – Distinct elements termed as
factors control the characteristics.
• These factors at all times exist as a couple. One of
the constituent genes of the couple dominates over
the former.
• Law of Segregation – Alleles don’t blend and the
two characteristics are recuperated all through the
gamete formation (in the F2 generation).
• The characters are apart from each other and pass
on to diverse gametes.
 Mendel's Laws of Inheritance
• Inheritance can be defined as the process of how a child
receives genetic information from the parent.
• The whole process of heredity is dependent upon
inheritance and it is the reason that the offsprings are
similar to the parents.
• This simply means that due to inheritance, the members
of the same family possess similar characteristics.
• It was only during the mid 19th century that people
started to understand inheritance in a proper way.
• This understanding of inheritance was made possible by
a scientist named Gregor Mendel, who formulated certain
laws to understand inheritance known as Mendel’s laws
of inheritance.
• Between 1856-1863, Mendel conducted the hybridization
experiments on the garden peas.
• During that period, he chose some distinct characteristics of the
peas and conducted some cross-pollination/ artificial pollination
on the pea lines that showed stable trait inheritance and
underwent continuous self-pollination. Such pea lines are called
true-breeding pea lines.
Why was Pea Plant Selected for Mendel’s Experiments?
• He selected a pea plant for his experiments for the following
reasons:
1.The pea plant can be easily grown and maintained.
2.They are naturally self-pollinating but can also be cross-
pollinated.
3.It is an annual plant, therefore, many generations can be studied
within a short period of time.
4.It has several contrasting characters.
• Mendel conducted 2 main experiments to determine the
laws of inheritance. These experiments were:
1.Monohybrid Cross
2.Dihybrid Cross
• While experimenting, Mendel found that certain factors
were always being transferred down to the offspring in a
stable way. Those factors are now called genes i.e. genes
can be called the units of inheritance.
Mendel’s Experiments
• Mendel experimented on a pea plant and considered 7
main contrasting traits in the plants. Then, he conducted
both experiments to determine the inheritance laws. A
brief explanation of the two experiments is given below.
 Monohybrid Cross
• In this experiment, Mendel took two pea plants of opposite
traits (one short and one tall) and crossed them. He found
the first generation offspring were tall and called it F1
progeny. Then he crossed F1 progeny and obtained both tall
and short plants in the ratio 3:1. To know more about this
experiment, visit
Monohybrid Cross – Inheritance Of One Gene.
• Mendel even conducted this experiment with other
contrasting traits like green peas vs yellow peas, round vs
wrinkled, etc. In all the cases, he found that the results were
similar. From this, he formulated the
laws of Segregation And Dominance.
Dihybrid Cross
• In a dihybrid cross experiment, Mendel considered two traits,
• After conducting research for other traits, the results were found
to be similar. From this experiment, Mendel formulated his second
law of inheritance i.e. law of Independent Assortment.

Conclusions from Mendel’s Experiments

• The genetic makeup of the plant is known as the genotype. On the
contrary, the physical appearance of the plant is known as
phenotype.
• The genes are transferred from parents to the offspring in pairs
known as alleles.
• During gametogenesis when the chromosomes are halved, there is
a 50% chance of one of the two alleles to fuse with the allele of
the gamete of the other parent.
• When the alleles are the same, they are known as homozygous
alleles and when the alleles are different they are known as
heterozygous alleles.
 Mendel’s laws
• The two experiments lead to the formulation of Mendel’s laws known as
laws of inheritance which are:
1.Law of Dominance
2.Law of Segregation
3.Law of Independent Assortment
Law of Dominance
• This is also called Mendel’s first law of inheritance. According to the
law of dominance, hybrid offspring will only inherit the dominant trait in
the phenotype. The alleles that are suppressed are called the recessive
traits while the alleles that determine the trait are known as the dominant
traits.
Law of Segregation
• The law of segregation states that during the production of gametes, two
copies of each hereditary factor segregate so that offspring acquire one
factor from each parent. In other words, allele (alternative form of the
gene) pairs segregate during the formation of gamete and re-unite
 Law of Independent Assortment
• Also known as Mendel’s second law of inheritance, the law of
independent assortment states that a pair of traits
segregates independently of another pair during gamete
formation. As the individual heredity factors assort
independently, different traits get equal opportunity to occur
together.
Key Points on Mendel’s Laws
• The law of inheritance was proposed by Gregor Mendel after
conducting experiments on pea plants for seven years.
• Mendel’s laws of inheritance include law of dominance, law
of segregation and law of independent assortment.
• The law of segregation states that every individual possesses
two alleles and only one allele is passed on to the offspring.
 Frequently Asked Questions
Q1. What are the three laws of inheritance proposed by
Mendel?
• The three laws of inheritance proposed by Mendel include:
• Law of Dominance
• Law of Segregation
• Law of Independent Assortment
Q2. Which is the universally accepted law of inheritance?
• Law of segregation is the universally accepted law of inheritance. It is
the only law without any exceptions. It states that each trait consists
of two alleles which segregate during the formation of gametes and
one allele from each parent combines during fertilization.
Q3. Why is the law of segregation known as the law of purity of
gametes?
• The law of segregation is known as the law of purity of gametes
because a gamete carries only a recessive or a dominant allele but not
Q4. Why was the pea plant used in Mendel’s
experiments?
• Mendel picked pea plants in his experiments because the
pea plant has different observable traits. It can be grown
easily in large numbers and its reproduction can be
manipulated. Also, pea has both male and female
reproductive organs, so they can self-pollinate as well as
cross-pollinate.

Q5. What was the main aim of Mendel’s experiments?

• The main aim of Mendel’s experiments was:
• To determine whether the traits would always be recessive.
• Whether traits affect each other as they are inherited.
• Whether traits could be transformed by DNA.
 The Chromosomal Theory of Inheritance
• Both genes and chromosomes exist in sets of two.
• The homologous chromosome contains the two
alleles of a gene pair in the homologous sites.
• The coupling and split of a set of chromosomes will
cause a split in the set of genes (factor) they carry.
• This united knowledge is termed the Chromosomal
Theory of Inheritance.
 Genetic Disorders
Disorders of a Mendelian nature include:
• Haemophilia.
• Sickle Cell Anaemia.
• Phenylketonuria.

Disorders of a chromosomal nature include:

• Down’s syndrome.
• Klinefelter’s Syndrome. Genes influence susceptibility to many
diseases and disorders. (a) X-ray of the hand
• Turners Syndrome. of a person suffering from diastrophic
dysplasia (bottom), a hereditary growth
disorder that results in curved bones, short
limbs, and hand deformities, compared with
an X-ray of a normal hand (top). (b) This
 Sex Determination
• A particular nuclear arrangement was perceived by Henking.
• He perceived that this particular nuclear arrangement was
found in only fifty per cent of sperms. He termed this body
as x.
• Later, it was observed that the ova which only obtained the
X chromosome matured and were born as females and
those that didn’t receive only X chromosomes were born as
males.
• Thus, the X- chromosome was termed a sex chromosome
and the remaining ones were termed autosomes.
• The occurrence due to which a modification in DNA happens
and causes a variation in the phenotype and genotype of a
creature is termed a Mutation.
 Incomplete Dominance & Mendel's Experiment
• Incomplete dominance is a form of intermediate
inheritance in which one allele for a particular trait is not
expressed completely over its paired allele.

Incomplete Dominance
• It is the discovery that was done after Mendel’s work.
• Incomplete dominance is the situation in which both the alleles do not
display a dominant trait resulting in a fine combination or a midway
amid the characteristics of the alleles.

Codominance
• When two alleles lack the dominant-recessive association and thus the
duo affects the creature together.
 Law of Independent Assortment
• The separation of one set of characteristics is
autonomous of the other set of characters when they
are pooled in a hybrid.

What is Incomplete Dominance?

• Incomplete dominance is a form of Gene interaction
in which both alleles of a gene at a locus are partially
expressed, often resulting in an intermediate or
different phenotype. It is also known as partial
dominance.
• For eg., in roses, the allele for red colour is dominant
over the allele for white colour. But, the heterozygous
 Mechanism of Incomplete Dominance
• Incomplete dominance occurs because neither of the
two alleles is completely dominant over the other.
This results in a phenotype that is a combination of
both.
• Gregor Mendel conducted experiments on pea plants.
He studied on seven characters with contrasting
traits and all of them showed a similar pattern of
inheritance. Based on this, he generalized the law of
inheritance.
• Later, researchers repeated Mendel’s experiment on
other plants. Shockingly, they noted that the F1
Generation showed variation from the usual pattern
of inheritance. The monohybrid cross resulted in F1
• Monohybrid cross was done between the red and white
coloured flowers of Snapdragon plant.
• Consider, pure breed of the red flower has RR pair of alleles
and that for the white flower is rr.
• Firstly, true-breeding red (RR) and white (rr) coloured flowers
of snapdragon were crossed. The F1­ generation produced a
pink coloured flower with Rr pair of alleles.
• Then the F1 progeny was self-pollinated. This resulted in red
(RR), pink (Rr) and white (rr) flowers in the ratio of 1:2:1.
• Recollect that the genotype ratio of F2 generation in the
monohybrid cross by Mendel also gave the same ratio of 1:2:1.
However, the phenotype ratio has changed from 3:1 to 1:2:1.
• The reason for this variation is the incomplete dominance of
the allele R over the allele r. This led to the blending of colour
in flowers.
 Concept of Dominance
• In genetics, Dominance is a relationship between alleles
of one gene.
• In order to understand the concept of the dominance of alleles,
we need to know more about genes.
• So far we know that genes are a hereditary unit in organisms
which exist as a pair of alleles in diploid organisms.
• These pair of alleles may or may not be similar. That is, a
heterozygous gene has two dissimilar pairs of alleles while
homozygous have identical ones.
• Heterozygous alleles carry different information on traits. When
we say one trait is dominant over the other, there can be two
reasons:
• either it is non-functional, or
• is less active than the normal allele
• Incomplete Dominance and Codominance
• Incomplete dominance and codominance are
different from each other.
• In codominance, both the alleles present on a gene
are expressed in the phenotype. A flower showing
codominance will have patches of red and white
instead of a uniformly pink flower.
• In incomplete dominance, the F2 generation from
heterozygous plants will have a ratio of 1:2:1 with
the phenotypes red, white and spotted flowers.
• The humans with AB blood type also show
codominance where the alleles for both blood types A
and B are expressed.
 In Humans
• The child of parents each with curly hair and straight
hair will always have wavy hair. Carriers of Tay-Sachs
disease exhibit incomplete dominance.

In Other Animals
• The Andalusian chicken shows incomplete dominance
in its feather colour.
• When the rabbits with long and short furs are bred,
the offsprings produced will have medium fur length.
PRACTICE MCQs on Genetics 4. The genotypic ratio of a
1. The tendency of an offspring to monohybrid cross is
resemble its parent is known as A. 1:2:1; B. 3:1
A. Variation C. 2:1:1
B. Heredity D. 9:3:3:1
C. Resemblance 5. The crossing of F1 to either of
D. Inheritance the parents is known as
2. Who is known as the “Father of A. Test cross; B. Back cross
Genetics”? C. F1 cross
A. Morgan D. All of the above; E. None of the
B. Mendel above
C. Watson 6. Which of the following
D. Bateson statements is true regarding the
“law of segregation”?
3. The alternate form of a gene is
A. Law of segregation is the law of
A. Alternate type; B. Recessive
purity of genes
character
B. Alleles separate from each other
7. Homozygosity and heterozygosity 10. The smallest unit of genetic
of an individual can be determined by material which produces a
1.Back cross phenotypic effect on mutation is
2.Self-fertilization 1.Muton
3.Test cross 2.Gene
4.All of the above 3.Recon
8. An exception to Mendel’s law is 4.Nucleic acid
5.Independent assortment 11. Mendel’s findings were
rediscovered by
6.Linkage
5.Correns
7.Dominance
6.De Vries
8.Purity of gametes
7.Tschermark
9. Pea plants were used in Mendel’s
experiments because 8.All
9.They were cheap 12. Alleles are
10.They had contrasting characters 9.Alternate forms of genes
11.They were available easily 10.Linked genes
12.All of the above 11.Chromosomes that have crossed over
13. When the activity of one gene is 16. A small amount of lethal
suppressed by the activity of a non- mutation is always present in the
allelic gene, it is known as population due to
1.Pseudo-dominance A. Positive selection ; B. Negative
2.Hypostasis selection
3.Epistasis C. Frequency-dependent selection
4.Incomplete dominance D. Mutation-selection balance E. None of
the above
14. Cystic fibrosis is
17. If a plant with genotype AaBb is
5.Sex-linked recessive disorder self-fertilized, the probability of
6.Autosomal dominant disorder getting AABB genotype will be (A
and B are not linked)
7.Autosomal recessive disorder
A. ½; B. ¼
8.Sex-linked dominant disorder
C. ⅛
15. 9:7 ratio in the F2 generation
represents D. 1/16; E. None of the above
9.Incomplete dominance 18. How many phenotypes can occur
in the human blood group ABO with
10.Co-dominance alleles IA IB i?
11.Epistasis A. 2; B. 3
19. The geometrical device that ANSWERS
helps to find out all the possible • !. B; 2. B
combinations of male and female
gametes is known as • 3. D; 4. A
A. Bateson Square; B. Mendel Square • 5. B; 6. D
C. Punnett Square • 7. C; 8. B
D. Mendel’s Cube • 9. B; 10. A
E. None of the above • 11. D; 12. A
20. Which term represents a pair • 13. C; 14. C
of contrasting characters?
• 15. C; 16. D
A. Heterozygous; B. Homozygous
• 17. D; 18. C
C. Codominant genes
• 19. C; 20. D
D. Allelomorphs
E. None of the above
Q1. What is the structure of DNA? DNA is a double helical
structure composed of nucleotides. The two helices are joined
together by hydrogen bonds. The DNA also bears a sugar-
phosphate backbone.
Q2. What are the three different types of DNA? The
three different types of DNA include: A-DNA; B-DNA and Z-
DNA
Q3. How is Z-DNA different from other forms of DNA? Z-
DNA is a left-handed double helix. The helix winds to the left
in a zig-zag manner. On the contrary, A and B-DNA are right-
handed DNA.
Q4. What are the functions of DNA? The functions of DNA
include:
• Replication
• Gene expression
 References
• https://byjus.com/biology/
• Moore K. Dalley A.F, and Agur AMR (2014). Clinically
Oriented Anatomy, Seventh Edition. Wollters Kluwer.
Lippincott, Williams & Wilkins
• Van De Graaff, K. (2001): Human Anatomy, Sixth
Edition. The McGraw−Hill Companies.
• Pierce BA (2016) Genetics A Conceptional Approach