MRCP UK EXAMINATIONS

Detailed explanation-1: -Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs. Cystic fibrosis is an example of a recessive disease.

Detailed explanation-2: -Using the CFTR2 Website In people with CF, mutations in the CFTR gene cause the CFTR protein to malfunction, leading to a buildup of thick mucus.

Detailed explanation-3: -Cystic fibrosis is an inherited disease caused by mutations in a genes called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene provides instructions for the CFTR protein.

Detailed explanation-4: -More than 1, 700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people.