Question

Give an example of 2 known mutations and 2 known point mutations that cause specific diseases. Explain how these mutations develop the illness.

Answer 1

Point and Chromosomal mutation

Substitution and Insertion

When a variant alters a protein that plays a critical role in the body, it can disrupt normal development or cause a health condition. A condition caused by variants in one or more genes is called a genetic disorder. In some cases, gene variants are so severe that they prevent an embryo from surviving until birth.