# Principles of Inheritance and Variation – Questions with Answers
## Section A: 2-Marks Questions
**Q1. What is the cause of Down’s syndrome? Give its symptoms. (CBSE 2020)**
- Cause: Trisomy of chromosome 21 (extra copy of 21st chromosome).
- Symptoms:
- Mental retardation/learning disability
- Flat face & broad forehead
- Open mouth with protruding tongue
- Short stature
**Q2. Differentiate between autosomes and sex chromosomes. (CBSE 2016)**
- Autosomes:
- Control body traits
- Humans have 22 pairs (44 chromosomes)
- Sex chromosomes:
- Determine sex & related traits
- 1 pair in humans (XX in females, XY in males)
**Q3. Why are sex-linked diseases more common in males than females? (CBSE 2016)**
- Males have only one X chromosome → single recessive allele expresses disease.
- Females need two recessive alleles on both X chromosomes → less frequent.
**Q4. A woman with normal vision, but whose father was colourblind, marries a man with normal
vision. What is the probability of her son being colourblind? Explain with a cross. (CBSE 2019)**
- Woman genotype: Carrier (X■X).
- Man genotype: Normal (XY).
- Cross: X■X × XY
- Sons: 50% colourblind (X■Y), 50% normal (XY).
- Probability of son colourblind = **50%**.
**Q5. Differentiate between Mendel’s concept of gene and the concept of allele in modern terms.
(CBSE 2018)**
- Mendel’s gene: Unit factor controlling a character.
- Modern allele: Alternate forms of the same gene found on same locus of homologous
chromosomes.
**Q6. How does the mechanism of sex determination in humans differ from that in birds? (CBSE
2019)**
- Humans: XX female, XY male → Male heterogametic.
- Birds: ZZ male, ZW female → Female heterogametic.
**Q7. Why is haemophilia more commonly observed in human males than females? Explain.
(CBSE 2020)**
- X-linked recessive disorder.
- Males: One X chromosome → single recessive allele expresses disease.
- Females: Need both X chromosomes with recessive allele → very rare.
**Q8. Explain the inheritance of ABO blood group in humans. A woman with blood group O marries
a man with blood group B and they have a child with O blood group. What are the genotypes of the
parents? (CBSE 2020)**
- Inheritance: Multiple allelism (IA, IB, i) + Codominance (IA, IB).
- Woman (O): ii
- Man (B, but has child with O): genotype must be IBi
- Child (O): ii
**Q9. Write two characteristic features of autosomal dominant traits. (CBSE 2017)**
- Expressed in both homozygous & heterozygous condition.
- Trait appears in every generation (does not skip).
**Q10. How does a test cross help to identify the genotype of an individual? (CBSE 2020)**
- Test cross = cross with homozygous recessive parent.
- If offspring all show dominant trait → parent homozygous dominant.
- If offspring show 1:1 dominant:recessive → parent heterozygous.
**Q11. Differentiate between complete dominance and co-dominance with an example. (CBSE
2018)**
- Complete dominance: One allele masks the effect of another (e.g., Tall × Dwarf pea → only tall).
- Co-dominance: Both alleles express equally (e.g., IAIB blood group = AB).
**Q12. Why are pedigree charts used in human genetics? Mention any two standard symbols used
in such charts. (CBSE 2016)**
- Used to trace inheritance of traits/diseases across generations.
- Symbols:
- Square → Male
- Circle → Female
- Shaded → Affected
**Q13. What is linkage? How does it differ from independent assortment? (CBSE 2017)**
- Linkage: Genes located close together on same chromosome are inherited together.
- Independent assortment: Genes on different chromosomes assort independently during gamete
formation.
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## Section B: 3-Marks Questions
**Q14. Explain the law of independent assortment with an example. (CBSE 2016)**
- Law: Alleles of different genes assort independently during gamete formation.
- Example: Dihybrid cross (RrYy × RrYy) produces 4 gamete types (RY, Ry, rY, ry).
- F2 ratio: 9 Round Yellow : 3 Round Green : 3 Wrinkled Yellow : 1 Wrinkled Green.
**Q15. A man with blood group A marries a woman with blood group B. Their child has blood group
O. Show with the help of a cross how this is possible.**
- Man: IAi (A group)
- Woman: IBi (B group)
- Cross: IAi × IBi → Offspring = IAIB (AB), IAi (A), IBi (B), ii (O)
- Hence child with O group possible.
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## Section C: 4-Marks Case-Based Questions
**Q16. A plant with round yellow seeds (RRYY) was crossed with wrinkled green seeds (rryy). All
F1 round yellow. When selfed → four seed types in F2.**
- Type of cross → Dihybrid cross.
- F2 phenotypes → Round Yellow, Round Green, Wrinkled Yellow, Wrinkled Green.
- Phenotypic ratio → 9:3:3:1
- Law illustrated → Law of independent assortment.
**Q17. Case Study Question – Dihybrid Cross (CBSE 2020)**
- F2 phenotypes → Round Yellow, Round Green, Wrinkled Yellow, Wrinkled Green.
- Ratio → 9:3:3:1
- Law → Independent assortment
- Genotypes → 16 combinations (RRYY, RRYy, RrYY, RrYy… etc).
**Q18. Case Study Question – Pedigree Analysis (CBSE 2021 Sample Paper)**
- Inheritance type → Autosomal dominant.
- Reasons:
- Appears in every generation.
- Both sexes equally affected.
- If male II is carrier → Not possible in dominant, but if recessive → yes, can appear in III.
- Example disorder → Huntington’s disease.
**Q19. A man with blood group A marries a woman with blood group B. They have children with
blood groups A, B, AB, O.**
- Parents’ genotypes → IAi (father), IBi (mother).
- Inheritance pattern → Multiple allelism + Codominance.
- Punnett square:
- IAi × IBi → IAIB (AB), IAi (A), IBi (B), ii (O).
- Alleles → IA, IB, i
- IA & IB → codominant
- i → recessive
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## Section D: 5-Marks Long Answer Questions
**Q20. Explain Mendel’s laws of inheritance using a dihybrid cross. (CBSE 2018)**
- Law of dominance, segregation, and independent assortment.
- Dihybrid cross: RrYy × RrYy
- Gametes: RY, Ry, rY, ry
- F2 ratio: 9:3:3:1
- Conclusion: Alleles of different genes assort independently.
**Q21. Write a short note on the chromosomal theory of inheritance. How did Morgan’s experiments
support it? (CBSE 2017)**
- Chromosomal theory (Sutton & Boveri):
- Genes located on chromosomes.
- Segregation & assortment of chromosomes explain inheritance.
- Morgan (Drosophila):
- Linked genes (eye colour & body colour).
- Showed crossing over → recombination.
- Proved genes are carried on chromosomes.
**Q22. What is pedigree analysis? How is it useful in human genetics? Draw symbols used in
pedigree charts. (CBSE 2020)**
- Pedigree analysis: Study of inheritance pattern in families using charts.
- Usefulness:
- Identify carrier individuals.
- Predict risk of genetic disorders.
- Distinguish dominant/recessive/sex-linked traits.
- Symbols:
- Male → Square
- Female → Circle
- Shaded → Affected
- Half-shaded → Carrier