Given below is the representation of amino acid composition of the relevant translated portion of chain of haemoglobin, related to the shape of human red blood cells.
a. Is this representation indicating a normal human or a sufferer from certain genetic disease? Give reason in support of your answer.
b. What difference would be noticed in the phenotype of the normal and the sufferer related to this gene?
c. Who are likely to suffer more from the defect related to the gene represented - the males, the females or both males and females equally? And why?
a. This representation indicates a normal human, because the Glutamic Acid in the sixth position is not substituted by Valine.
b.The sufferer’s RBCs become elongated and sickle shaped as compared to the normal biconcave RBCs.
c. Both males and females are likely to suffer from the disease equally, as this is not a sex linked disease.It is an autosomal linked recessive trait.