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Biochemistry General 4da65b17

Sickle cell anemia is due to which type of mutation?

A
Frame-shift mutation
B
Base substitution mutation
C
Trinucleotide repeat
D
Splice site mutation
High-Yield Explanation
Ans. is 'b' i.e., Base substitution mutation Sickle cell anemia is a hereditary hemoglobinopathy, i.e., the type of disease characterized by production of defective hemoglobin. Sickle cell anemia results from mutation in b-globin gene. It is caused by a point mutation (Base substitution mutation) at the sixth position of the b-globin chain leading to subsitution of a valine residue for a glutamic acid residue resulting in sickle hemoglobin (HbS). Sickle cell anemia is an autosomal recessive disorder. If an individual is homozygous for the sickle cell mutation, almost all the hemoglobin in the red cell is HbS. In heterozyogotes, only about 40% of the hemoglobin is HbS, the remainder being normal hemoglobins.

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