First slide

Mutation

Question

A classic example of point mutation is:

Easy

A

Colour blindness
B

Haemophilia
C

Sickle celled anemia
D

Down's syndrome

Solution

A classic example of point mutation is sickle cell anemia. The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule. The substitution of amino acid in the globin protein results due to the single base substitution at the sixth codon of the beta globin gene from GAG to GUG.

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