Cystic fibrosis

Cystic Fibrosis

Cystic Fibrosis is an autosomal recessive disease located on chromosome 7. Cystic Fibrosis is caused by a mutation to the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the Caucasin UK population, in which the triplet code for the amino acid phenylalanine is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis.

Classes of CFTR Mutations

Class I: Premature Stop Codons

Class II: Abnormal Processing

Class III: Altered Regulation

Class IV: Conductance Defect

Class V: Reduced Protein Synthesis