CBSE · CLASS XII · BIOLOGY · CHAPTER 5

Principles of Inheritance
& Variation
Complete Notes with Diagrams · Exam-Ready

📘 Genetics & Evolution Unit ⚡ Mendel · Morgan · Chromosomal Basis

🎯 NCERT Based

01
Introduction

Key Definitions

Genetics: Branch of biology that deals with the study of heredity (inheritance) and variation in
organisms.

Inheritance (Heredity): The process by which characters are passed from parents to offspring
through genes.

Variation: Differences in characters among individuals of the same species or offspring of the
same parents.
02
Gregor Johann Mendel

Why Mendel Chose Pea Plant (Pisum sativum)?

Naturally self-pollinating — easy to maintain pure lines

Can also be cross-pollinated experimentally
Short life cycle — several generations per year
Large number of offspring — valid statistical analysis
7 pairs of contrasting characters easily distinguishable
Inexpensive and easy to grow in large quantities

The 7 Contrasting Characters of Pea Plant

# Character Dominant Recessive

1 Seed Shape Round Wrinkled

2 Seed Colour Yellow Green

3 Pod Shape Inflated (Full) Constricted

4 Pod Colour Green Yellow

5 Flower Colour Violet White

6 Flower Position Axial Terminal

7 Plant Height Tall Dwarf

03
Monohybrid Cross

Law of Dominance & Segregation

Cross between two plants differing in one pair of contrasting characters.

DIAGRAM — MONOHYBRID CROSS (TALL × DWARF)

P G E N E R AT I O N
Tall (TT) Dwarf (tt)
Pure Dominant × Pure Recessive

Gametes: T Gametes: t

F ₁ G E N E R AT I O N
Tall (Tt)
All Tall — Hybrid

Self

F ₂ G E N E R AT I O N
TT Tt Tt tt
Tall (1) Tall (2) Tall (2) Dwarf (1)

Phenotypic Ratio → 3 Tall : 1 Dwarf | Genotypic Ratio → 1 TT : 2 Tt : 1 tt

PUNNETT SQUARE — F₁ SELF (TT × TT)

T t

T TT Tt

t Tt tt

3:1 1:2:1
 Phenotypic Ratio Genotypic Ratio
Tall : Dwarf TT : Tt : tt

04
Mendel's Laws

Law 1 — Law of Dominance

When two homozygous parents with contrasting characters are crossed, only one character
(dominant) appears in the F₁ generation. The other (recessive) is suppressed but not lost.

Characters are controlled by discrete units called factors (genes)

Factors occur in pairs (alleles)
In a dissimilar pair, one allele dominates over the other

Law 2 — Law of Segregation (Purity of Gametes)

The two alleles of a gene pair segregate (separate) during gamete formation. Each gamete
receives only one allele of each gene pair. Alleles reunite randomly at fertilisation.

★ CBSE Favourite: This is the ONLY law that is universal — applies to all sexually reproducing
organisms.

Proved by test cross (F₁ × recessive parent → 1:1 ratio)

Law 3 — Law of Independent Assortment

When two or more pairs of characters are inherited simultaneously, the factors of each pair
assort independently into gametes.
 Observed in dihybrid crosses — applies only when genes are on different chromosomes (non-
linked).

F₂ Phenotypic Ratio = 9 : 3 : 3 : 1

05
Dihybrid Cross

Cross between plants differing in two pairs of contrasting characters — e.g., seed shape (Round
R / Wrinkled r) × seed colour (Yellow Y / Green y).

DIAGRAM — DIHYBRID F₂ PUNNETT SQUARE (RRYY × RRYY)

RY Ry rY ry

RY
RRYY RRYy RrYY RrYy
Round Yellow Round Yellow Round Yellow Round Yellow

Ry
RRYy RRyy RrYy Rryy
Round Yellow Round Green Round Yellow Round Green

rY
RrYY RrYy rrYY rrYy
Round Yellow Round Yellow Wrinkled Yellow Wrinkled Yellow

ry RrYy Rryy rrYy rryy

Round Yellow Round Green Wrinkled Yellow Wrinkled Green
 9 3 3 1
Round Yellow Round Green Wrinkled Yellow Wrinkled Green

Important Genetic
06

Terminology

Term Definition

Alleles Alternative forms of a gene occupying the same locus on homologous chromosomes

Dominant Allele that expresses its effect even in heterozygous condition

Recessive Allele that expresses only in homozygous condition (aa)

Homozygous Two identical alleles (AA or aa) — true breeding / pure line

Heterozygous Two different alleles (Aa) — hybrid

Genotype Genetic constitution of an organism (e.g., TT, Tt, tt)

Phenotype Physical/observable expression of the genotype

Test Cross Crossing F₁ hybrid with homozygous recessive parent to find genotype

Back Cross Crossing F₁ with any parent (test cross is a type of back cross)

Locus Specific position of a gene on a chromosome

Incomplete Dominance &

07

Codominance
 Incomplete Dominance

Neither allele completely dominates the other. The F₁ phenotype is intermediate between both
parents.

Example: Flower colour in Antirrhinum (Snapdragon) / Mirabilis jalapa (4 o'clock plant)

Red (RR) × White (rr) → Pink (Rr) in F₁
F₂ ratio: 1 Red : 2 Pink : 1 White (Phenotypic = Genotypic)

⚠ CBSE EXAM NOTE

Genotypic ratio = Phenotypic ratio (1:2:1) in incomplete dominance — unlike Mendel's 1:2:1 genotypic
and 3:1 phenotypic.

Codominance

Both alleles express themselves simultaneously and independently in heterozygous condition.

Example: ABO blood group system — IA and IB alleles are codominant → Blood group AB

ABO Blood Groups &

08

Multiple Allelism

ABO Blood Group System

Controlled by gene I with three alleles: IA, IB, i — best example of multiple allelism in humans.

Blood Group (Phenotype) Genotype Antigen on RBC Antibody in Plasma

A IAIA or IAi A Anti-B

 Blood Group (Phenotype) Genotype Antigen on RBC Antibody in Plasma

B IBIB or IBi B Anti-A

AB IA IB A and B None (Universal Recipient)

O ii None Anti-A and Anti-B (Universal Donor)

IA and IB are codominant to each other; both are dominant over i.

09
Sex Determination

XX-XY Type (Humans & Drosophila)

DIAGRAM — SEX DETERMINATION IN HUMANS

Father (XY) Mother (XX)

♂ Male ♀ Female

Sperm: X or Y Eggs: X (only)

XX XY
♀ Female — 50% ♂ Male — 50%

Sex ratio → 1 : 1 (Male : Female)

Types of Sex Determination

Type Male Female Example

XX-XY XY XX Humans, Drosophila, many mammals

 Type Male Female Example

XX-XO XO XX Grasshopper, bugs (Lygaeus)

ZZ-ZW ZZ ZW Birds, some fish, butterflies

Haplodiploid Haploid (n) Diploid (2n) Honey bee

10
Linkage & Crossing Over

Linkage

The tendency of genes located on the same chromosome to be inherited together is called linkage.
Linked genes do NOT assort independently (exception to Law 3).

Morgan worked on Drosophila melanogaster (fruit fly)

Genes on the same chromosome = linked genes = linkage group
Number of linkage groups = haploid number of chromosomes
Drosophila has 4 linkage groups (2n = 8)

Crossing Over

Exchange of segments between non-sister chromatids of homologous chromosomes during

meiosis I (pachytene stage). Leads to recombinants.

DIAGRAM — CROSSING OVER

 BEFORE AFTER (RECOMBINANTS)
A B A b
→
a b a B

Chiasmata (crossing point) Ab and aB = Recombinant types

Parental: AB and ab Recombinant: Ab and aB

Recombination Frequency = (Recombinants / Total offspring) × 100

Complete Linkage: No recombinants — genes always inherited together (e.g., male Drosophila).
Incomplete Linkage: Some recombinants due to crossing over (most organisms).

11
Sex-Linked Inheritance

Haemophilia (X-linked Recessive)

Disease where blood fails to clot normally due to absence of clotting factors VIII (Haemophilia A)
or IX (Haemophilia B).

Gene on X chromosome — X-linked recessive

Women are carriers (XHXh) — do not show disease
Affected males: XhY — Haemophilic male
Daughters of haemophilic father are all carriers
Queen Victoria of England was a carrier — spread through royal families

⚠ EXAM ALERT
 A haemophilic female (XhXh) is rare because she must inherit Xh from both parents — father must be
haemophilic, mother must be carrier.

Colour Blindness (X-linked Recessive)

Inability to distinguish red from green
Gene on X chromosome
Males (XbY) affected more frequently than females
Carrier female: XBXb

Genotype Phenotype

XB XB Normal female

XB Xb Carrier female (normal vision)

X bX b Colour blind female (rare)

XB Y Normal male

X bY Colour blind male

12
Mutation

Types of Mutations

A. Chromosomal Mutations (Numerical)

Aneuploidy: Change in number of individual chromosomes

Monosomy: 2n−1 (loss of one chromosome)
Trisomy: 2n+1 (gain of one chromosome)
Euploidy (Polyploidy): Change in entire chromosome sets
 Triploidy (3n), Tetraploidy (4n) etc.
Very common in plants — useful in agriculture

B. Gene Mutations (Point Mutations)

Change in single base pair of DNA

Transition: Purine ↔ Purine or Pyrimidine ↔ Pyrimidine
Transversion: Purine ↔ Pyrimidine
Frame-shift mutation: Insertion/deletion of base pairs → changes reading frame

13
Chromosomal Disorders

Disorder Chromosomes Features

Down's Trisomy 21 Mental retardation, short stature, small round head,

Syndrome (2n+1=47) epicanthic fold, open mouth; caused by non-disjunction

Klinefelter's XXY (47 Male; feminised characteristics, sterile, gynaecomastia

Syndrome chromosomes) (breast development), reduced facial hair

Turner's XO (45 Female; short stature, sterile, rudimentary ovaries,

Syndrome chromosomes) webbed neck, shield chest

Patau's Trisomy 13 Severe intellectual disability, cleft lip/palate, extra digits;

Syndrome usually fatal in infancy

Edward's Trisomy 18 Heart defects, clenched fists, low birth weight; usually fatal
Syndrome

Non-disjunction = failure of chromosomes to separate during meiosis → gametes with extra or

missing chromosomes.
14
Pedigree Analysis

Symbols Used in Pedigree

PEDIGREE CHART LEGEND

Normal Male Normal Female Carrier Female

Affected Male Affected Female

Mating Line Consanguineous Mating

How to Analyse a Pedigree

1. If both parents unaffected → trait is recessive
2. If trait appears in all generations → likely dominant
3. If more males affected than females → likely X-linked recessive
4. If father-to-son transmission → autosomal (not X-linked)
5. If all sons of affected mother affected → X-linked

Mendelian Disorders in
15

Humans

Disorder Inheritance Defect/Feature

Sickle Cell Anaemia Autosomal Single base substitution (GAG→GUG); Glu→Val in β-

Recessive globin; RBCs become sickle-shaped under low O₂
 Disorder Inheritance Defect/Feature

Phenylketonuria Autosomal Absent phenylalanine hydroxylase enzyme;

(PKU) Recessive phenylalanine accumulates → mental retardation

Thalassaemia Autosomal Reduced/absent globin chains; α or β thalassaemia;

Recessive quantitative defect

Haemophilia A X-linked Absence of clotting Factor VIII

Recessive

Haemophilia B X-linked Absence of clotting Factor IX (Christmas disease)

Recessive

Colour Blindness X-linked Inability to distinguish red-green colours

Recessive

Huntington's Autosomal Degeneration of nervous system; trinucleotide repeat

Disease Dominant expansion (CAG); onset after 30–40 yrs

Myotonic Autosomal Progressive muscle weakness

Dystrophy Dominant

Quick Revision — Key

16

Ratios

Important Ratios at a Glance

Cross Phenotypic Ratio Genotypic Ratio

Monohybrid F₂ 3:1 1:2:1

Monohybrid Test Cross 1:1 1:1

Dihybrid F₂ 9:3:3:1 1:2:1:2:4:2:1:2:1

Dihybrid Test Cross 1:1:1:1 1:1:1:1

 Cross Phenotypic Ratio Genotypic Ratio

Incomplete Dominance F₂ 1:2:1 1:2:1

Codominance (ABO AB × O) 1A:1B —

Morgan & Drosophila

17

Experiments

Thomas Hunt Morgan used Drosophila melanogaster (fruit fly) for genetics research.

Why Drosophila?

Short generation time (~2 weeks)

Large number of offspring per mating
Only 4 pairs of chromosomes (2n = 8)
Males have no crossing over (complete linkage)
Many visible mutant characters
Inexpensive to maintain

Key Experiments

Crossed yellow body white eye female × brown body red eye male
Observed two groups of offspring: parental types (majority) and recombinants (minority)
Concluded genes on same chromosome = linked
Linkage map — relative distances between genes using recombination frequency
1 map unit (cM) = 1% recombination frequency

18
Historical Timeline
1856–1863
Mendel conducts pea plant experiments at Brünn monastery

1865
Mendel presents paper "Experiments on Plant Hybridisation" — largely ignored

1900
Mendel's work rediscovered by DeVries, Correns, and Tschermak independently

1902
Sutton & Boveri propose Chromosomal Theory of Inheritance

1910–1915
T.H. Morgan provides experimental evidence for chromosomal theory using Drosophila; discovers linkage
& crossing over

1953
Watson & Crick propose DNA double helix — molecular basis of inheritance established

CLASS XII BIOLOGY · CBSE · CHAPTER 5 — PRINCIPLES OF INHERITANCE & VARIATION

Study Hard · Score Big 🎯