In: Biology
Sickle cell anemia is a genetic disease, which is caused by a mutation in a hemoglobin gene.
For a normal person----> Hemoglobin gene (wild-type) ----> 6th codon is GAG (DNA) ---> After transcription----> ------>converted to GAG (mRNA)-----> After translation ------> Results in hemoglobin protein (wild-type) (Glutamic acid at position 6)----> Shape of hemoglobin is normal.
For a person with Sickle cell anemia----> Hemoglobin gene (mutant)----> 6th codon is GTG (DNA)----> After transcription ----> converted to GUG (mRNA)----->After translation -----> Results in mutant hemoglobin protein E6V (Glutamic acid converted to Valine)-----> Shape of the hemoglobin is changed (sickle shaped), which allows it to clump together and interrupt blood flow.
So the single mutation at 6 th codon of hemoglobin gene results in change in the shape of hemoglobin (sickle shaped) and leads to sickle cell anemia.
Note: All the mutation site and mutated base are bold and underlined.