1) What is the name of the type of mutation that results in the S allele? 2) Spe
ID: 3165125 • Letter: 1
Question
1) What is the name of the type of mutation that results in the S allele? 2) Specifically, what is the impact of that mutation the resulting hemoglobin polypeptide? (refer to the amino acid table at the end of the exam) 3) What impact does this have on the function of the resulting S hemoglobin polypeptide, and its ability to bind O2? 4) Which is the best genotype in an environment in which malaria is NOT present, and why? 5) Which is the best genotype in an environment in which malaria IS present, and why?
Explanation / Answer
Q.1
The name of the mutation which results in S allele is Single nucleotide substitution.
Q.2
The resulting impact would be a change in the amino acid from Glutamic acid (coded by GAG) to Valine (GTG).
Q.3
The resulting haemoglobin would become sickle shaped RBC, this in turn decreases the binding efficiency of Oxygen.
Q.4
The best genotype in an environment where malaria is not present is Haemoglobin AA.
Normal genotype Haemoglobin AA indicates normal haemoglobin with high level of oxygen binding capacity.
Q.5
The best genotype in an environment where malaria is present is AS.
It is because malarial parasite has high level of oxygen consumption.
Normal genotype indicates normal haemoglobin with high level of oxygen binding capacity which in turn results in high level parasite duplication.
People with genotype AA, SS are more prone to malarial infection.
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