Chapter - 3

Genetics – Some Basic Fundamentals

What is Genetics?

Definition: Genetics is the study of transmission of body

features (both similarities and differences) from parents to
offspring and the laws relating to such transmission.

Gregor Mendel – The Father of Genetics:

Full Name: Gregor Mendel (1822–1884)
Background:

Austrian monk
Studied science and mathematics at the University of Vienna
Returned to monastery, began experiments in his garden

Key Contribution:
Discovered principles of inheritance through pea plant
experiments

These findings formed the basis of Mendel’s Laws of

Inheritance
Modern Applications of Genetics:

1. Genetic Engineering:
Changing the genetic constitution of an organism
Examples:
Bacteria producing human insulin

Genetically Modified Organisms (GMO)

2. Medical Genetics:
Genetic counseling before childbirth

Detects possible inherited diseases

Examples of genetic disorders:
Haemophilia

Thalassaemia
Sickle Cell Anaemia
Heredity

Definition:
Heredity is the transmission of genetically based
characteristics from parents to offspring.

Historical Understanding:
Known for centuries: observed in both animals and plants.
Example: Humans give birth to humans only; a mango seed
grows into a mango tree.
Key Principle:
➤ "Like begets like"
– Young ones resemble their parents (species-specific
inheritance)

Supporting Examples:
Cats give birth to cats, not dogs.
Humans don’t give birth to apes, even though similarities
exist.
Bacteria reproduce their own kind even after hundreds of
generations.

Variations in Population
Observation: Even though offspring resemble parents, no
two individuals are identical.

Cause: Differences in genetic makeup (variation).

Sources of Variation:
Different combinations of inherited traits

Environmental factors
Important Terms:
Race: Large group sharing common physical traits.

Breed: Subdivisions within a species (e.g., dog breeds).

Individual Differences: Members of the same family may
show unique features.

Character and Trait

Character: Any inheritable feature (e.g., eye color, height).
Trait: Alternative forms of a character (e.g., blue eyes, brown
eyes).
Inheritance in Humans (Common Hereditary Traits):
1. Eye Colour – Brown / Blue

2. Hair Shape – Curly / Straight

3. Eyebrows – Heavy / Thin
4. Finger Hair – Present / Absent

5. Colour Vision – Normal / Red-green Colour Blind

6. Tongue Rolling – Can / Cannot roll tongue
7. Hand Use – Right / Left-handedness

8. Skin Colour – Light / Dark (Albinism)

9. Ear Lobe – Free / Attached
10. Lips – Thick / Thin

11. Blood Group – Rh Positive / Rh Negative

Chromosomes – Carriers of Heredity
Chromosomes

Definition:
Chromosomes are thread-like structures located inside the
nucleus of a cell, visible only during cell division.
Function:
Carry genes (units of heredity).

Transmit hereditary traits from one generation to the next.

Karyotype:
An image showing all chromosomes arranged in pairs by
size and shape.
Human karyotype has 23 pairs = 46 chromosomes.
Human Chromosomes

23 pairs
22 pairs = autosomes
1 pair = sex chromosomes (XX or XY)

Males: XY, Females: XX

Chromosome Number in Other Organisms:
Organism - Chromosome Number

Lion - 38
Tiger - 38
Cat - 38

Mouse - 40
Human - 46
Gorilla - 48
Potato - 48
Monkey - 54

Chicken - 78
Some Insects - >1000
Chromosomes in Homologous Pairs

In diploid organisms (like humans), chromosomes occur in

pairs.
Each pair has one chromosome from the father and one
from the mother.
These pairs are called homologous chromosomes.
Homologous chromosomes:

Have the same size and shape

Carry genes for the same traits, but may have different
versions (alleles)

Categories of Chromosomes
1. Autosomes:
The first 22 pairs of chromosomes.

Identical in both males and females.

2. Sex Chromosomes:
23rd pair
Females: XX
Males: XY

Y chromosome is much smaller than X.

Sex Determination – Son or Daughter?
Each egg (female gamete) carries one X chromosome.

Sperm (male gamete) may carry either X or Y.

Possibilities:
X (egg) + X (sperm) → XX → Female (daughter)

X (egg) + Y (sperm) → XY → Male (son)

✔️ Father decides the sex of the child depending on whether
his sperm carries an X or Y chromosome.

Genes and Alleles – The Real Units of Heredity

Gene
Definition:

A gene is a unit of DNA that carries the information for the

inheritance of a specific trait.
Function:

Located on chromosomes
Control all inheritable traits
Work in pairs – one gene from each parent
Influence physical traits, biochemical processes, and
developmental patterns

Alleles
Definition:
Alleles are different forms of the same gene located on
homologous chromosomes.
Example:
Gene for eye color:

One allele codes for brown eyes (B)

Another allele codes for blue eyes (b)
Both alleles occupy the same locus (position) on
homologous chromosomes
Dominant and Recessive Alleles

Dominant Expressed trait, even if only one copy is

present (e.g., B for brown eyes)

Recessive Hidden trait, expressed only when both

alleles are recessive (e.g., b for blue eyes)

Example:
Genotype: Bb → Brown eyes (B is dominant)
Genotype: bb → Blue eyes (recessive trait expressed)

Genotype and Phenotype

Genotype - Genetic makeup (e.g., BB, Bb, or bb)
Phenotype - Physical expression of the trait (e.g., eye color)

Note:
Two individuals can have the same phenotype (brown eyes)
but different genotypes (BB or Bb).

Homozygous and Heterozygous

Homozygous - Both alleles are same (BB or bb)
Heterozygous - Two different alleles (Bb)

Mendel’s Experiments – The Basis of Modern Genetics

Gregor Johann Mendel’s Work
Known as the “Father of Genetics”

Conducted experiments between 1856–1863 on pea plants

(Pisum sativum)
Published his work in 1865, but it was recognized much later
(1900)
Why Mendel Chose Pea Plants (Pisum sativum)?
1. Easily available and could be grown in large numbers.

2. Short life cycle – quick generation of results.

3. Cross-pollination and self-pollination possible.
4. Distinct, easily observable traits (e.g., tall vs dwarf, green
vs yellow seeds).
5. True-breeding varieties available (plants showing same
trait for generations).

Traits Studied by Mendel

Mendel’s Approach
1. Started with pure (true-breeding) plants

Example: pure tall plant × pure dwarf plant

2. Performed controlled crosses between selected plants.
3. Observed results in first generation (F₁) and second
generation (F₂).
4. Used mathematics and statistics to interpret the data.
Important Terms:

Parent generation (P): Original pure-breeding plants

F₁ Generation: First generation of offspring
F₂ Generation: Offspring of F₁ plants
Key Observations:
In F₁ generation, only the dominant trait appeared (e.g., tall
plants).
In F₂ generation, the recessive trait reappeared in 1 out of 4
plants.

This led to the 3:1 phenotypic ratio in monohybrid crosses.

Mendel’s Laws of Inheritance
Law of Dominance

Definition:
When two contrasting alleles are present together
(heterozygous), only the dominant allele is expressed in the
phenotype.
Example:
Cross between pure tall (TT) and dwarf (tt) plants:

F₁ generation: All plants are tall (Tt) – only dominant trait

appears.
Law of Segregation (Law of Purity of Gametes)

Definition:
Each individual has two alleles for each gene, but only one
allele passes into a gamete during reproduction.

Explanation:
In a heterozygous plant (Tt), the two alleles segregate during
gamete formation.

Gametes carry either T or t, never both.

Recombination during fertilization results in different
combinations.

Monohybrid Cross: (Example: Tall × Dwarf)

Parents: TT (Tall) × tt (Dwarf)
Gametes: T and t

F₁ Generation: All Tt → Tall

F₂ Generation (Selfing F₁ plants – Tt × Tt):

Genotypic Ratio:
TT : Tt : tt = 1 : 2 : 1

Phenotypic Ratio:
Tall : Dwarf = 3 : 1
Law of Independent Assortment
Definition:

During gamete formation, the segregation of alleles of one

pair is independent of another pair.
Example:
Dihybrid cross: Seed shape (Round vs Wrinkled) and Seed
color (Yellow vs Green)
Round Yellow (RRYY) × Wrinkled Green (rryy)
Dihybrid Cross: (F₁ × F₁ generation)

F₂ Phenotypic Ratio:
Round Yellow : Round Green : Wrinkled Yellow : Wrinkled
Green = 9 : 3 : 3 : 1

Observation: Traits are inherited independently of each

other.
Mendel’s Contribution:

1. Introduced use of mathematics in biology

2. Gave clear laws on heredity
3. His laws still form the foundation of classical genetics

Mutations, Variations & Chromosomal Behavior

Mutation
Definition:

A mutation is a sudden change in the genetic makeup (gene

or chromosome) of an organism, which may lead to a
change in its characteristics.

Causes of Mutation:
1. Radiations: X-rays, gamma rays, UV rays
2. Chemicals: Certain drugs and industrial pollutants

3. Viruses: Some viral infections can cause genetic damage

Examples of Mutations:
Albinism (lack of skin pigment)

Polydactyly (extra fingers/toes)

Dwarfism
Sickle cell anaemia

Thalassaemia
Cancer (often triggered by genetic mutation)
Chromosomal Abnormalities

Definition:
Any change in the number or structure of chromosomes is a
chromosomal abnormality.

Types:
1. Numerical abnormalities: Extra or missing chromosomes
Example: Down syndrome (47 chromosomes)

2. Structural abnormalities: Deletion, duplication,

translocation of chromosome parts
Effects:
Can result in mental retardation, deformities, or sterility.
Variation

Definition:
Differences in traits among individuals of the same species.
Types of Variations:

Importance of Variation:

Provides raw material for evolution

Increases diversity
Helps in adaptation and survival

Causes of Variations:
1. Genetic recombination during fertilization
2. Crossing over during meiosis
3. Random assortment of chromosomes
4. Environmental influence (e.g., climate, diet)

Sex Determination and Sex-Linked Inheritance

Sex Determination in Humans
Chromosomal Basis:

Total chromosomes in humans = 46 (23 pairs)

22 pairs = Autosomes
1 pair = Sex chromosomes

Sex Chromosome Composition:

Female: XX
Male: XY

Gametes:
Females produce ova (eggs) with only X chromosomes.
Males produce two types of sperm: X-bearing and Y-bearing.

Process of Sex Determination:

Egg (X) + Sperm Result Sex of Child
✅ Therefore, it is the father who determines the sex of the
child, depending on whether his sperm contributes an X or Y
chromosome.
Sex-Linked Inheritance

Definition:
Traits whose genes are present on sex chromosomes
(mostly X) are called sex-linked traits.

Why mostly X-linked?

X chromosome is much larger and carries more genes than
the Y chromosome.

Y chromosome carries very few genes, mostly related to

male development.
Examples of Sex-Linked Disorders (Mostly Recessive):

1. Haemophilia
Blood fails to clot properly due to missing clotting proteins.
Affected individuals bleed excessively even from minor cuts.
More common in males (XY) as they lack a second X to
compensate.
2. Red-Green Colour Blindness
Difficulty in distinguishing red and green colors.

X-linked recessive trait; also more frequent in males.

Inheritance Pattern:
Females (XX):

Need two copies of defective gene to be affected (less

likely).
Can be carriers if one X has the gene and the other does
not.
Males (XY):
Only one X, so one defective gene is enough to cause the
disorder.
Carrier Mother Possibilities:

(Where X⁺ = normal gene, Xʰ = gene for haemophilia)

Pedigree Analysis & Inheritance of Blood Groups
Pedigree Chart (Family Tree)
Definition:

A pedigree chart is a diagram that shows how a trait or

genetic disorder is inherited through several generations of a
family.

Purpose:
Tracks occurrence of traits
Predicts chances of inheritance

Helps in genetic counseling

Symbols Used in Pedigree Charts:
Symbol - Meaning

⬜ Unaffected male
⚪ Unaffected female
◼️ Affected male

⚫ Affected female
Horizontal line - Marriage
Vertical line - Offspring

Key Points:
Traits can be dominant or recessive
Recessive traits often skip generations
Used to identify carriers and risk factors
Blood Group Inheritance (ABO System)

Blood groups are inherited and controlled by multiple alleles:

Iᴬ, Iᴮ, i
Genotypes and Blood Groups:

Blood Group - Genotype

Iᴬ and Iᴮ are co-dominant (both expressed when together)

i is recessive (only expressed when in pair)
Parental Cross Example:

Parents: A (Iᴬi) × B (Iᴮi)

Offspring Blood Groups: A, B, AB, and O (all possible)

Importance in Transfusions:

Applications of Genetics in Daily Life

Applications of Genetics

Genetics has a wide range of applications in fields like

medicine, agriculture, forensics, and industry.
1. Genetic Engineering

Definition:
The deliberate modification of an organism’s genetic material
using biotechnology.

Uses:
Producing insulin, growth hormones
Developing disease-resistant crops
Creating genetically modified organisms (GMOs)

Examples:
Insulin-producing bacteria
Bt cotton (resistant to pest)
2. Medicine
Genetic Counseling:

Provides guidance to parents with family history of genetic

diseases.
Helps assess the risk of passing on disorders.

Gene Therapy:
Replacement of faulty genes with normal ones.
Still under experimentation for diseases like sickle cell
anaemia and cystic fibrosis.
3. Forensic Science
DNA Fingerprinting:

Unique identification of individuals using their DNA profile.

Used in crime detection, paternity tests, and disaster victim
identification.

4. Agriculture
Improved Crop Varieties:
Better yield, resistance to disease, drought tolerance

Hybrid Varieties:
Cross-breeding for desired traits.
Example: High-yielding wheat, rice.
5. Evolutionary Studies
DNA studies help determine evolutionary relationships
among species.
Example: Comparing human DNA with chimpanzees to trace
ancestry

6. Industrial Uses
Use of genetically modified microbes to produce:
Alcohol, enzymes, organic acids

Social and Ethical Issues in Genetics

Concerns:
Cloning of humans

Designer babies
Use of genetic data by insurance companies or employers
Ethical guidelines are necessary to ensure responsible use
of genetic technology.
Effects of Radiation
Impact of Radiation on Genes

Radiations can cause mutations by damaging the DNA

structure.
Examples of Radiation Sources:

Nuclear explosions
Radiation therapy
Accidental exposure from nuclear plants.

Famous Incidents:
1. Atomic Bombings – Hiroshima and Nagasaki (1945):
Led to widespread mutations due to exposure to radioactive
radiation.
Resulted in:
Deformities in humans and animals

Birth defects in future generations

Genetic disorders that persist even today
2. Chernobyl Disaster (1986):

Nuclear plant explosion in Ukraine

Caused long-term genetic damage and cancers in the local
population

Summary: Effects of Mutagens (like Radiation)

Importance of Genetic Awareness

Understanding heredity helps:

Detect and manage genetic disorders
Make informed reproductive decisions

Promote healthy genetic practices in agriculture and

medicine