Explain the connections that lead from a specific AT to TA b

Explain the connections that lead from a specific A-T to T-A base pair substitution in the human beta-globin gene to resistance to malaria.

Also, in what way is there a genotypeby-environment interaction in the case of the genetic variation at this site in this gene?

Solution

In humans, who are Heterozygous for Sickle cell anemia show resistant to Malaria. In these individulas, one allele of the beta globin gene is normal and the other underwent mutation. This mutation is a type of point mutation called Missence mutation. This missence mutation is due to the T-A Nucleotide conversion in beta chain of globin., which is a Transverse mutation.

This mutation substitute the Glutamic acid (Acedic amino acid) in place of Valine (Hydrophobic, nutral amino acid) in the beta chain of globin.

GTA encodes Valine, GAA encodes Glutamic acid. Upon substitution of A in place of T in beta chain, the normal beta chain become sickle cell hemoglobin