What is sickle-cell anemia?

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Question

(C) Sickle-cell anemia is an autosomal-linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier

Vedclass · Accepted Answer

It is caused by the substitution of glutamic acid by valine in the beta-globin chain of hemoglobin.

Vedclass · Answer

(C) Sickle-cell anemia is an autosomal-linked recessive trait that can be transmitted from parents to the offspring when both the partners are carriers for the gene. It is caused by a point mutation in the $DNA$ sequence,specifically the substitution of glutamic acid $(Glu)$ by valine $(Val)$ at the sixth position of the beta-globin chain of the hemoglobin molecule. This substitution occurs due to the single base pair change in the $DNA$ sequence ($GAG$ to $GTG$). While option $D$ mentions a change in a single base pair,option $C$ provides the most specific and accurate biological description of the molecular defect associated with the disease.

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