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Principles of Inheritance and Variation

Mendel's laws, dihybrid cross, codominance, sex-linked traits, chromosomal disorders

Mendel LawsMonohybrid CrossDihybrid CrossIncomplete DominanceCodominanceSex DeterminationSex-linked TraitsChromosomal Disorders
📋 PYQs Available:
20232022202120202019
Expert Content

Principles of Inheritance and Variation

Why This Chapter Matters

Genetics is ALWAYS in NEET — 8-12 marks. Mendel's laws, dihybrid crosses, codominance, incomplete dominance, linkage, sex-linked traits, and chromosomal disorders are all tested extensively.

Prerequisites

Cell Biology: nucleus, chromosomes, meiosis
Basic understanding of DNA

Core Concepts

1. Mendel's Experiments

Mendel used Pisum sativum (garden pea) because:

True breeding varieties available
Short generation time
Many contrasting characters
Self + cross pollination possible
Large number of offspring

7 pairs of contrasting characters:

Seed shape: round vs wrinkled

Seed colour: yellow vs green

Pod shape: inflated vs constricted

Pod colour: green vs yellow

Flower colour: violet vs white

Flower position: axial vs terminal

Plant height: tall vs dwarf

2. Mendel's Laws

Law of Dominance: In a cross between true-breeding contrasting characters, only dominant character appears in F₁.

Law of Segregation (Purity of Gametes): Two alleles of a character separate during gamete formation. Each gamete has only ONE allele.

Law of Independent Assortment: Alleles of different characters assort independently during gamete formation (provided genes are on different chromosomes).

3. Monohybrid Cross

TT (Tall) × tt (dwarf)

F₁: All Tt (Tall) — dominance

F₁ × F₁: Tt × Tt

F₂ genotype ratio: 1 TT : 2 Tt : 1 tt = 1:2:1

F₂ phenotype ratio: 3 Tall : 1 dwarf = 3:1

4. Dihybrid Cross

RRYY (Round Yellow) × rryy (Wrinkled Green)

F₁: All RrYy (Round Yellow)

F₁ × F₁: RrYy × RrYy

F₂ phenotype ratio: 9:3:3:1

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

Test cross: F₁ hybrid × homozygous recessive

Monohybrid test cross ratio: 1:1 | Dihybrid: 1:1:1:1

5. Incomplete Dominance

Neither allele is completely dominant. F₁ shows intermediate phenotype.

Example: Red (RR) × White (rr) → F₁ Pink (Rr) flowers in Mirabilis jalapa (4 o'clock plant)

F₁ × F₁: 1 Red : 2 Pink : 1 White (1:2:1 phenotype ratio — same as genotype)

6. Codominance

Both alleles expressed simultaneously in heterozygote.

Example: ABO blood groups

I^A I^A or I^A i → Blood group A

I^B I^B or I^B i → Blood group B

I^A I^B → Blood group AB (CODOMINANCE — both A and B antigens expressed)

ii → Blood group O

7. Multiple Alleles

A gene having more than 2 alleles in a population.

Example: ABO blood groups — I^A, I^B, i (3 alleles for 1 gene)

Hierarchy: I^A = I^B > i

8. Linkage and Crossing Over

Linkage: Genes on the same chromosome tend to be inherited together (do NOT show independent assortment).

Morgan worked on Drosophila melanogaster.

Recombination frequency: % of offspring showing new combinations (recombinant types).

1% recombination = 1 centimorgan (cM) = 1 map unit

Complete linkage: No crossing over → parental type only

Incomplete linkage: Crossing over occurs → parental types + recombinant types

9. Sex Determination

XX-XY system (Humans, Drosophila, most mammals): Females = XX, Males = XY

ZW-ZZ system (Birds, butterflies, some fish): Females = ZW, Males = ZZ

XO system (Grasshopper): Females = XX, Males = XO

10. Sex-Linked Inheritance

Genes on X chromosome (X-linked) show sex-linked inheritance.

Males (XY) have only ONE X — hemizygous, so recessive allele is expressed.

Haemophilia: X-linked recessive. "Royal disease"

Normal female (X^H X^H) | Carrier female (X^H X^h) | Haemophilic female (X^h X^h, rare)

Normal male (X^H Y) | Haemophilic male (X^h Y)

Colour blindness: X-linked recessive. Red-green colour blindness. More common in males.

Trait from father to son: NOT possible for X-linked traits (father gives Y to son)

Trait from father to daughter: Father gives X to daughter (all daughters of colour-blind father are at least carriers)

11. Chromosomal Disorders

Aneuploidy (abnormal chromosome number):

Non-disjunction during meiosis → extra or missing chromosome

Down's Syndrome (Trisomy 21): 47 chromosomes, trisomy of chromosome 21

Features: mental retardation, short stature, abnormal hand palm crease, susceptibility to infections

Maternal age increases risk.

Klinefelter's Syndrome (47, XXY): Male with extra X. Sterile, feminine features (gynaecomastia).

Turner's Syndrome (45, XO or 45, X): Female with one X missing. Short stature, infertile, web neck.

Edwards Syndrome (Trisomy 18): 47 chromosomes, trisomy of chromosome 18.

Polyploidy: Common in plants (not animals). Extra sets of chromosomes.


PYQs (NEET)

NEET 2023: In a test cross of a dihybrid F₁, the expected ratio of offspring is:

1:1:1:1 (if genes are on different chromosomes — independent assortment)

NEET 2022: Turner's syndrome has the genotype:

45, X (or 45, XO) — only one sex chromosome

NEET 2021: In ABO blood groups, codominance is shown by:

Blood group AB (I^A I^B) — both A and B antigens expressed simultaneously

NEET 2020: Red-green colour blindness gene is located on:

X chromosome (X-linked recessive)


MCQ Practice

Q1. Phenotypic ratio in incomplete dominance F₂ cross:

(A) 3:1 (B) 1:2:1 ✓ (C) 9:3:3:1 (D) 1:1

Q2. Which cross verifies genotype of an organism?

(A) Monohybrid cross (B) Dihybrid cross (C) Test cross ✓ (D) Reciprocal cross

Q3. Haemophilia is more common in males because:

(A) Males have less blood (B) Males have only one X chromosome ✓ (C) Gene is on Y (D) Autosomal recessive

Q4 (Hard). If a colour-blind father has a daughter with normal vision, the mother must be:

(A) Colour blind (B) Normal (C) Carrier or normal (if daughter got X^H from mother) (D) Carrier ✓

Q5 (Hard). Frequency of recombinant types in F₂ dihybrid cross (if 0% crossing over occurs):

Two linked genes — no crossing over → only parental types. Recombinant frequency = 0%.


Revision Notes

MENDEL'S LAWS:
1. Dominance: F₁ shows only dominant character
2. Segregation: alleles separate in gametes
3. Independent assortment: different genes assort independently

RATIOS:
Monohybrid F₂ phenotype: 3:1 | genotype: 1:2:1
Dihybrid F₂ phenotype: 9:3:3:1
Incomplete dominance F₂: 1:2:1 (phenotype = genotype)
Codominance: both alleles expressed (AB blood group)
Test cross: F₁ × homozygous recessive → 1:1 (mono) | 1:1:1:1 (di)

ABO BLOOD: I^A, I^B (codominant), i (recessive) → A, B, AB, O

SEX DETERMINATION:
XX-XY: humans, Drosophila (female XX)
ZW-ZZ: birds (female ZW)

SEX-LINKED:
Haemophilia, colour blindness: X-linked recessive
More common in males (hemizygous, no dominant allele to mask)

CHROMOSOMAL DISORDERS:
Down's: Trisomy 21 (47 chromosomes)
Klinefelter's: 47 XXY (male)
Turner's: 45 XO (female, infertile)
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