Principles of Inheritance and Variation Question 198

198. The most striking example of point mutation is found in a disease called

[1995]

(a) thalassemia

(b) night blindness

(c) down’s syndrome

(d) sickle cell anaemia

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Answer : d

Hints & Solution

(d) Sickle cell anaemia (in which nucleotide triplet GAG is changed to GUG) affects the $\beta$-globin chain of haemoglobin. Since these changes occur at a particular locus or point of a chromosome where specific gene is located, they are called as point mutation.