KCET2026BiologyPrinciples of Inheritance and Variation
The classical example of point mutation is
Options
- AHaemophilia
- BSickle cell anaemia
- CCystic fibrosis
- DPhenyl ketonuria
Correct answer
B. Sickle cell anaemia
Step-by-step solution
Sickle cell anaemia is the classical example of a point mutation. It is caused by the substitution of a single nitrogenous base (GAG GUG) at the sixth codon of the -globin chain of the haemoglobin molecule. This single base substitution leads to the replacement of glutamic acid by valine at the sixth position of the -globin chain, resulting in the sickle shape of red blood cells under low oxygen tension. Answer: Sickle cell anaemia