CLASS XII BIOLOGY

SHORT NOTES
Chapter: Principles of Inheritance and Variation
NCERT | New Syllabus | Series C
Genetics & Heredity | Mendel's Laws | Chromosomal Theory | Genetic Disorders
1. INTRODUCTION TO GENETICS
Genetics: The branch of biology that deals with heredity and variation.
Heredity: The transmission of characters from parents to offspring.
Variation: Differences among individuals of the same species.
Inheritance: The process by which traits pass from parent to offspring.

Key Scientist: Gregor Johann Mendel (1822–1884) — 'Father of Genetics.' He conducted

hybridisation experiments on pea plants (Pisum sativum) for 7 years (1856–1863) and published
his work in 1866.

2. MENDEL'S EXPERIMENTS
2.1 Why Mendel Chose Pea Plant?
• Short life span — grew rapidly, completed life cycle in one season.
• Many varieties — 34 different varieties were available.
• Bisexual flowers — both male and female organs in same flower (self-pollinating).
• Cross-pollination possible — by hand emasculation.
• Clear contrasting traits — 7 easily observable pairs of characters.
• — statistical analysis possible.

2.2 Mendel's 7 Pairs of Contrasting Traits in Pea

Character Dominant Trait Recessive Trait
Stem Height Tall (T) Dwarf (t)
Flower Colour Violet (V) White (v)
Flower Position Axial (A) Terminal (a)
Seed Shape Round (R) Wrinkled (r)
Seed Colour Yellow (Y) Green (y)
Pod Shape Inflated (I) Constricted (i)
Pod Colour Green (G) Yellow (g)

2.3 Important Terminology

Gene: A unit of heredity that occupies a specific locus on a chromosome and encodes a particular
trait.
Allele: Alternate forms of a gene occupying the same locus on homologous chromosomes. E.g., T
and t are alleles for stem height.
Locus: The fixed position of a gene on a chromosome.
Dominant Trait: A trait that expresses itself even in the presence of a contrasting allele. Represented
by CAPITAL letter (T).
Recessive Trait: A trait that expresses itself only in homozygous condition. Represented by
lowercase letter (t).
Homozygous: Having identical alleles for a trait at a locus (TT or tt). Also called pure breeding.
Heterozygous: Having different alleles for a trait at a locus (Tt). Also called hybrid.
Genotype: The genetic constitution of an organism (e.g., TT, Tt, tt).
Phenotype: The observable/physical expression of the genotype (e.g., Tall, Dwarf).
Monohybrid Cross: A cross between parents differing in only ONE pair of contrasting characters.
Dihybrid Cross: A cross between parents differing in TWO pairs of contrasting characters.
F1 Generation: First Filial generation — offspring of a cross between two parents (P generation).
F2 Generation: Second Filial generation — offspring produced by self-fertilisation of F1 plants.
Test Cross: A cross between an organism of unknown genotype with a homozygous recessive
individual to determine genotype.
Back Cross: Cross of F1 hybrid with one of its parents.
Reciprocal Cross: Two crosses where male and female parents are interchanged.

3. MENDEL'S LAWS OF INHERITANCE

3.1 Law of Dominance (First Law)
When two organisms homozygous for contrasting traits are crossed, the trait that appears in the F1
generation is called dominant and the one that remains hidden is called recessive.

Example: TT (Tall) × tt (Dwarf) → All F1: Tt (Tall). 'Tall' is dominant; 'Dwarf' is recessive.

3.2 Law of Segregation / Purity of Gametes (Second Law)

The two alleles of a gene pair segregate (separate) from each other during gamete formation, and
each gamete receives only ONE allele. This is also called the 'Law of Purity of Gametes.'
Monohybrid Cross Ratios:
• All Tall (Tt)
• 3 Tall : 1 Dwarf
• 1 TT : 2 Tt : 1 tt

Punnett Square for F2 (Tt × Tt): T t T TT Tt t Tt tt Phenotype: 3 Tall : 1 Dwarf | Genotype:

1:2:1
3.3 Law of Independent Assortment (Third Law)
When two pairs of traits are combined in a hybrid, the segregation of one pair of characters is
independent of the segregation of the other pair of characters. This produces new combinations
(recombinants).
Dihybrid Cross: RRYY × rryy
• P: Round Yellow × Wrinkled Green
• F1: All RrYy (Round Yellow)
• F2 Phenotypic Ratio: 9 Round Yellow : 3 Round Green : 3 Wrinkled Yellow : 1 Wrinkled Green
• F2 Genotypic Ratio: 1:2:1:2:4:2:1:2:1 (9 types)

IMPORTANT: This law applies only to genes located on DIFFERENT (non-homologous)

chromosomes. Genes on the same chromosome do NOT independently assort — they show
linkage.

3.4 Test Cross

A test cross is used to determine whether a dominant phenotype individual is homozygous (TT) or
heterozygous (Tt).
• Tall (TT) × Dwarf (tt) → All Tall → Parent is homozygous (TT)
• Tall (Tt) × Dwarf (tt) → 1 Tall : 1 Dwarf → Parent is heterozygous (Tt)

4. DEVIATIONS FROM MENDEL'S LAWS

4.1 Incomplete Dominance
Neither allele is completely dominant. The F1 heterozygote shows an intermediate phenotype
between the two parents.
• Example: Snapdragon (Antirrhinum majus) — flower colour
• RR (Red) × rr (White) → Rr (Pink) in F1
• F2 ratio: 1 RR (Red) : 2 Rr (Pink) : 1 rr (White) → 1:2:1 (phenotypic = genotypic ratio)

4.2 Co-dominance
Both alleles express themselves simultaneously in the heterozygote. Neither is dominant over the
other.
• Example: ABO Blood Group in humans
• I^A allele produces antigen A; I^B produces antigen B; i produces no antigen
• I^A I^B person has BOTH A and B antigens → Blood Group AB
4.3 Multiple Alleles
When more than two alleles exist for a gene in the population, the gene is said to have multiple
alleles.
• Example: ABO blood group — 3 alleles: I^A, I^B, i
Blood Group Genotype Antigens Antibodies
A I^AI^A or I^Ai A Anti-B
B I^BI^B or I^Bi B Anti-A
AB I^AI^B A and B None
O ii None Anti-A, Anti-B

4.4 Pleiotropy
Pleiotropy: A single gene affecting multiple phenotypic traits.
• Example: Phenylketonuria (PKU) — single gene mutation affects skin, hair colour, and mental
development.
• Example: Starch production in pea seeds — gene affects both seed texture (round/wrinkled)
and starch branching.

4.5 Polygenic Inheritance

Polygenic Inheritance: A trait controlled by more than one gene, each with an additive effect.
• Results in continuous variation (bell-shaped curve in population).
• Examples: Skin colour, height, intelligence in humans.
• Environment also plays a significant role.

5. CHROMOSOMAL THEORY OF INHERITANCE

Proposed by Walter Sutton and Theodore Boveri (1902) — they correlated Mendel's factors (genes)
with chromosomes.

5.1 Salient Features

• Chromosomes are the physical carriers of genes.
• Genes are located at specific loci on chromosomes.
• Chromosomes (and hence genes) occur in pairs in somatic cells.
• During meiosis, homologous chromosomes segregate → Law of Segregation.
• Non-homologous chromosomes assort independently → Law of Independent Assortment.
5.2 Linkage and Recombination
Linkage: Genes located on the same chromosome tend to be inherited together. They do NOT
assort independently.
Recombination: Production of new gene combinations through crossing over during meiosis.
Studied by Thomas Hunt Morgan using Drosophila melanogaster (fruit fly).
• Linked genes deviate from expected 9:3:3:1 dihybrid ratio.
• Tightly linked genes show very low recombination frequency.
• Morgan discovered sex-linked traits and constructed first genetic map.

5.3 Morgan's Drosophila Experiments

• Morgan studied traits: body colour (yellow/grey) and wing shape (vestigial/normal).
• He found that traits on same chromosome do not assort independently.
• Coined the term 'Recombination' for new gene combinations formed by crossing over.
• Recombination frequency = (Recombinant offspring / Total offspring) × 100

One centiMorgan (cM) = 1% recombination frequency between two loci. Used to construct
genetic/chromosome maps.

6. SEX DETERMINATION
6.1 Sex Chromosomes
Autosomes: All chromosomes except sex chromosomes. Humans have 44 autosomes (22 pairs).
Sex chromosomes: Chromosomes that determine sex. X and Y chromosomes in humans.
Human Karyotype: 2n = 46 (44 autosomes + 2 sex chromosomes)
• Female: 44 + XX
• Male: 44 + XY

6.2 Mechanisms of Sex Determination

Mechanism Example Details
XX-XY Humans, Drosophila Female: XX; Male: XY. Y carries
male-determining gene (SRY).
XX-XO Grasshopper, Bugs Female: XX; Male: XO (no Y
chromosome). Males have odd
number of chromosomes.
ZW-ZZ Birds, Butterflies, Lizards Female: ZW (heterogametic);
Male: ZZ (homogametic).
Opposite of humans.
Haplodiploidy Honey bee Males from unfertilised eggs
 (haploid, n); Females from
fertilised eggs (diploid, 2n).

7. SEX-LINKED INHERITANCE
Genes present on sex chromosomes (especially X chromosome) are called sex-linked genes. Their
inheritance differs from autosomal genes.

7.1 X-linked Recessive Disorders

Colour Blindness: Inability to distinguish between red and green colours. Gene on X chromosome.
More common in males (X^c Y) than females (X^c X^c).
Haemophilia: Blood clotting disorder. Bleeding does not stop normally. X-linked recessive. Called
'Royal disease' as it affected European royal families. Queen Victoria was a carrier.
• Haemophilia A — deficiency of clotting factor VIII (most common)
• Haemophilia B — deficiency of clotting factor IX
• Affected male: X^H Y (where X^H = haemophilia allele)
• Carrier female: X^H X (normal phenotype but carries the gene)
• Affected female: X^H X^H (very rare, usually lethal)

KEY: Sons of a carrier mother have 50% chance of having haemophilia. Daughters of an
affected father are all carriers (if mother is normal).

8. MUTATION
Mutation: A sudden, heritable change in the DNA sequence of an organism.

8.1 Types of Mutations

Gene/Point Mutation: Change in a single nucleotide base pair in the DNA. E.g., sickle cell anaemia
— GAG → GUG (A → T substitution).
Chromosomal Mutation (Chromosomal Aberrations): Changes in chromosome structure or
number.
• Deletion — loss of a segment of chromosome
• Duplication — extra copy of a chromosome segment
• Inversion — a segment reversed within the chromosome
• Translocation — segment shifts to a non-homologous chromosome

Aneuploidy: Change in chromosome number by gain or loss of one or few chromosomes (not the
whole set).
• Monosomy — 2n - 1 (loss of one chromosome)
• Trisomy — 2n + 1 (gain of one chromosome)
Polyploidy: Increase in whole sets of chromosomes (e.g., 3n, 4n). Common in plants; rare in
animals.
9. GENETIC DISORDERS / HEREDITARY DISEASES
9.1 Mendelian / Monogenic Disorders
Caused by mutation in a single gene. Follow Mendelian inheritance patterns.

A. Autosomal Recessive Disorders

Sickle Cell Anaemia: Caused by substitution of Glutamic acid by Valine at position 6 of beta-
haemoglobin chain. Gene: HbS. Individuals with HbS HbS have the disease. HbA HbS are carriers
(sickle cell trait). Provides resistance to malaria in heterozygous state.
• Symptoms: Sickling of RBCs under low O2, anaemia, blocked capillaries, pain crises.
• Inheritance: Autosomal recessive — both parents must be carriers for child to be affected.

Phenylketonuria (PKU): Autosomal recessive disorder. Deficiency of enzyme phenylalanine

hydroxylase. Phenylalanine accumulates, converted to phenylpyruvate (phenylketone) excreted in
urine. Causes mental retardation, fair skin, musty odour.

Cystic Fibrosis: Autosomal recessive. Defective CFTR gene on chromosome 7. Causes thick, sticky
mucus in lungs, digestive tract. Most common lethal genetic disease in Caucasians.

Thalassaemia: Autosomal recessive blood disorder. Deficiency in alpha (alpha-thalassaemia) or beta

(beta-thalassaemia) globin chain of haemoglobin. Causes haemolytic anaemia. Common in
Mediterranean, Asian populations.

B. Autosomal Dominant Disorders

Myotonic Dystrophy: Autosomal dominant. Affects muscles; causes muscle weakness and wasting.
Huntington's Disease: Autosomal dominant. Progressive neurological disorder. Caused by CAG
repeat expansion in HTT gene on chromosome 4. Symptoms appear after age 30-40 (delayed onset).
No cure.
Marfan Syndrome: Autosomal dominant. Defect in fibrillin protein. Causes tall stature, long limbs,
heart and eye problems.

C. X-linked Disorders
Colour Blindness: (See Section 7.1)
Haemophilia A & B: (See Section 7.1)
Duchenne Muscular Dystrophy (DMD): X-linked recessive. Dystrophin protein absent. Progressive
muscle wasting starting in childhood. Affects only males clinically.
9.2 Chromosomal Disorders
Caused by absence, excess, or abnormal arrangement of chromosomes.

A. Disorders due to Autosomal Aberrations

Down's Syndrome (Trisomy 21): Caused by extra copy of chromosome 21 (2n+1 = 47). Also called
Trisomy 21. Phenotype: short stature, round face, epicanthic folds, broad forehead, mental
retardation, congenital heart defects. Incidence increases with maternal age.
Edward's Syndrome (Trisomy 18): Extra chromosome 18. Severe mental retardation, organ
malformations. Usually fatal in infancy.
Patau's Syndrome (Trisomy 13): Extra chromosome 13. Severe disabilities. Usually fatal.

B. Disorders due to Sex Chromosome Aberrations

Disorder Karyotype Sex Features
Turner's Syndrome 44+X (45,X) Female (XO) Short stature, webbed
neck, infertile,
underdeveloped
ovaries, no
menstruation.
Klinefelter's Syndrome 44+XXY (47,XXY) Male (XXY) Taller than normal,
breast development
(gynaecomastia), small
testes, infertile.
Super Female / Triple 44+XXX (47,XXX) Female (XXX) Usually normal,
X sometimes menstrual
irregularities.
Jacob's Syndrome / 44+XYY (47,XYY) Male (XYY) Usually normal, taller,
Super Male mild behavioural
issues, fertile.

10. PEDIGREE ANALYSIS

Pedigree: A diagrammatic representation of inheritance of a trait across generations in a family.
Symbols used:
• Circle (O) = Female
• Square (□) = Male
• Filled symbol = Affected individual
• Half-filled = Carrier (heterozygous)
• Horizontal line between symbols = Mating
• Vertical line below mating pair = Offspring
How to Determine Pattern of Inheritance from Pedigree
• If trait skips generations — likely recessive
• If trait appears in every generation — likely dominant
• If only males affected — likely X-linked recessive
• If both sexes equally affected — likely autosomal
• Affected father cannot pass X-linked trait to son (he gives Y to son)

EXAM TIP: In pedigree problems, first check if the trait is dominant/recessive, then autosomal/X-
linked. Use cross-elimination method.

11. VARIATION
Variation: Differences in characters among individuals of a species.

11.1 Types of Variation

Genetic (Heritable) Variation: Caused by mutations, recombination, chromosomal aberrations.
Passed to offspring.
Environmental (Non-heritable) Variation: Caused by environmental factors (food, climate, etc.).
NOT passed to offspring.

11.2 Sources of Genetic Variation

• Mutations — sudden changes in DNA
• Recombination — crossing over during meiosis I
• Random fertilisation — random fusion of gametes
• Independent assortment — random distribution of chromosomes
• Migration — gene flow between populations

12. QUICK REVISION TABLE

Topic Key Point
Mendel's Law 1 Law of Dominance — dominant trait expresses in
F1
Mendel's Law 2 Law of Segregation — alleles separate during
gamete formation
Mendel's Law 3 Law of Independent Assortment — genes on diff
chromosomes assort independently
Monohybrid F2 ratio 3 : 1 (Phenotypic) | 1:2:1 (Genotypic)
Dihybrid F2 ratio 9 : 3 : 3 : 1 (Phenotypic)
Incomplete Dominance 1:2:1 phenotypic ratio in F2 (e.g., Snapdragon)
Co-dominance Both alleles expressed — e.g., AB blood group
Sex Determination (Human) XY (Male), XX (Female) — male is heterogametic
Birds Sex Det. ZW (Female), ZZ (Male) — female is
heterogametic
Down Syndrome Trisomy 21 | 47 chromosomes
Turner Syndrome 45,X | Female | Infertile
Klinefelter Syndrome 47,XXY | Male | Infertile
Sickle Cell Anaemia Autosomal recessive | Glu → Val in Hb beta chain
Haemophilia X-linked recessive | Clotting factor deficiency
Colour Blindness X-linked recessive | More common in males
Huntington's Disease Autosomal dominant | Late onset neurological
disorder

— End of Short Notes: Principles of Inheritance and Variation —

NCERT Class XII Biology | New Syllabus | Series C