What type of mutation causes sickled cell anemia ?

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BlackTom AI · Accepted Answer

When examining the question about the type of mutation that causes sickle cell anemia, we should look at the genetic change involved in the beta-globin gene (HBB).
Option 1: substitution. This is the correct mechanism here: a single nucleotide substitution (specifically a A to T transversion in the codon) changes the codon from GAG (glutamic acid) to GTG (valine), producing the abnormal hemoglobin S. This single base change alters the protein sequence and leads to the characteristic sickling of red blood cells.
Option 2: deletion. Deletion would remove one or more nucleotides from the DNA sequence. While deletions can cause severe disorders, sickle cell disease is not caused by a simple deletion in HBB; the classic cause is a point mutation, not a loss of bases.
Option 3: insertion. Insertion adds nucleotides into the sequence. Although insertions can disrupt genes and cause frameshift mutations with drastic effects, the well-established cause of sickle cell anemia is a substitution that yields a specific amino acid change, not an inserted base changing the reading frame.
In summary, sickle cell anemia arises from a precise single-nucleotide substitution in the beta-globin gene, yielding hemoglobin S, rather than from deletions or insertions which would produce different mutation types and outcomes.

SMC 2025 Spr - BIOL 3 (1286,1288) - Fundamentals of Biology (G) Quiz 9 DNA

What type of mutation causes sickled cell anemia ?

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