Question

Short Explain and tyoe please explain how a single base mutation can have a huge affect on the expression of a gene. Why are most of these mutations devastating for gene expressions? How can they sometimes be beneficial? Use sickle-cell anemia as a case study for answering this question.

Answer 1

Single base mutation is also called as point mutation .Here only one base or nucleotide of the DNA or RNA is altered either by addition or deletion resulting in adverse effects on the sybssynthesized protein.This cause a huge change in the gene expression.

Most of the mutation are devastating for gene expression because they alter the nature , function ,structure of an organism when it is carried to offspring if it is germ line mutation occurring in ovum and sperm.

Sickle cell anemia is a point mutation or single base mutation where mutation occurs in the Beta-globin chain of hemoglobin which is found in chromosome 11.Due to this the hydrophobic aminoacid valine is replaced by in place of hydrophilic aminoacid glutamic acid.This mutation causes the hemoglobin in short of oxygen and distortinthe cells are distorted like a sickle shaped.This will clog the capillaries and cease circulation which is life threatening.