Physiology & Biochemistry · single question

Sickle cell anemia is caused by which type of mutation?

  1. Sense mutation
  2. Nonsense mutation
  3. Missense mutation
  4. Silent mutation
Show answer and explanation

Correct answer: C. Missense mutation

Sickle cell anemia is caused by a missense mutation. A single nucleotide substitution in the beta-globin gene changes the codon GAG (glutamic acid) to GTG (valine) at position 6 of the beta-globin chain. Because a different amino acid is incorporated (valine instead of glutamic acid), this is a classic missense mutation. A nonsense mutation would introduce a premature stop codon. A sense/silent mutation would not change the amino acid. The altered protein causes RBCs to sickle under low oxygen.

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