PATHOLOGY

Detailed explanation-1: -Cystic fibrosis: Two frameshift mutations (one is the insertion of two nucleotides and the other deletion of one nucleotide) in the CFTR genes result in cystic fibrosis. The CFTR gene regulates the proper flow of ions, i.e., chloride and sodium, across the cell membranes of lungs and other organs.

Detailed explanation-2: -Two frameshift mutations in the CFTR genes cause cystic fibrosis (one involves the insertion of two nucleotides, and the other involves the deletion of one nucleotide).

Detailed explanation-3: -It is a type of frameshift mutation characterized by the loss of one or more nucleotides from the segment of DNA. Example of deletion mutation is DiGeorge syndrome. DiGeorge syndrome is a disorder caused due to the deletion of a small segment of chromosome 22.

Detailed explanation-4: -An insertion or deletion involving a number of base pairs that is not a multiple of three, which consequently disrupts the triplet reading frame of a DNA sequence.