MRCP UK EXAMINATIONS

Detailed explanation-1: -The deletion of phenylalanine 508 in the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator is directly associated with >90% of cystic fibrosis cases.

Detailed explanation-2: -The Cystic Fibrosis Gene A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is delta F508, accounting for approximately 70% of all mutations.

Detailed explanation-3: -Worldwide, the main mutation of CFTR gene is F508del, with a prevalence ranging from 30-80%. In Caucasian populations, the F508del mutation is found in approximately 70-88% of the alleles in CF patients.

Detailed explanation-4: -The delta F508 is the most common defect in the cystic fibrosis (CF) gene; it involves in a 3-base deletion in codon 508 and results in the loss of a phenylalanine residue at amino acid position 508.

Detailed explanation-5: -F508del is the most common of the more-than 1, 400 CF mutations. Around 90% of the UK CF population carries at least one copy, and around 50% carries two.