Mutation Flashcards

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1
Q

sickle-cell anemia

A

Sickle-cell anemia caused by gene substitution . Amino acid valine replaces glutamic acid at a single position in the protein (B-strand) . This causes missense mutation . Abnormal Hb which Sickle (S) shape and Hb-S is stiff and tend to accumulate in the capillaries . Hb is not efficient in transporting oxygen . Patient suffer from anemia .

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