The Cystic fibrosis transmembrane regulator (CFTR) gene located on chromosome 7 encodes CFTR protein - a protein that is involved in transportation of chloride ions and water molecules across cell membranes. CFTR is a member of the ATP-binding cassette family of membrane transport proteins but appears to be unique within this family by functioning as an ion channel rather than an active transporter protein.
Mutations in the CFTR gene is associated with Cystic fibrosis (CF). These mutations disrupt the chloride ion transport required to maintain the viscosity of mucus in the respiratory, digestive, and reproductive systems. The build-up of highly viscous mucus in different organs leads to the manifestation of signs and symptoms characteristic to CF. CFTR gene mutations have also been implicated in Congenital bilateral absence of the vas deferens (CBAVD), characterized by an absence of vas deferens since birth. Studies have indicated that mutations in the CFTR gene could protect carriers against Salmonella typhi, the bacteria that causes typhoid fever.
[See also: Egypt > Wahab et al., 2004; Syria > Wahab et al., 2002].
[See also Bahrain >Eskandarani, 2002].
Dawson and Frossard (2000a and 2000b) hypothesized that the founder delta F508 mutation in CFTR gene, which is suggested to have spread to Europe around 40,000 years ago, occurred among the inhabitants of Iranian Plateau. As a result of further migration, the descendants of these inhabitants who moved to Baluchistan is thought to have introduced the F508 mutation in the UAE and other Gulf countries in the last 150 years.