Sickle cell anemia results from a single base substitution in a gene, thus it is an example of
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Genetics of Sickle Cell Anemia
The mutation causing sickle cell anemia is a single nucleotide substitution (A to T) in the codon for amino acid 6. The change converts a glutamic acid codon (GAG) to a valine codon (GTG). The form of hemoglobin in persons with sickle cell anemia is referred to as HbS.
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