Question

Which disease is caused by point mutation?

Answer 1

Hint: During DNA replication, point mutations normally occur. DNA replication happens when two single strands of DNA are formed by each double-stranded DNA molecule; each one is a template for the complementary strand formation.

Complete Answer:
- A point mutation or replacement is a genetic mutation in which a single nucleotide base is mutated, substituted or removed from the genome of an organism's DNA or RNA series.
- Point mutations have a range of implications on the downstream protein component, results that are reasonably predictable depending on the mutation's particulars.
- Sickle-cell anaemia occurs due to the point mutation in the haemoglobin β-globin chain, allowing the glutamic acid hydrophilic amino acid to be substituted at the sixth spot with the valine hydrophobic amino acid.
- On the short arm of chromosome 11, the β-globin gene is located. Haemoglobin S (HbS) determines the interaction of two wild-type alpha-globin subunits with two mutant β-globin subunits.
- The lack of a polar amino acid at position six of the Beta-globin chain facilitates the non-covalent polymerization of haemoglobin under low-oxygen conditions, which obscures red blood cells into a sickle form and reduces their elasticity.

Note: Hemoglobin is the protein that is present in red blood cells that is essential for oxygen delivery across the body. The hemoglobin protein consists of two sub-units: alpha-globins and beta-globins.