Chloride Channel Defects: Cystic Fibrosis

Cystic fibrosis (mucoviscidosis) is a highly variable
multisystemic disorder due to mutations of
the cystic fibrosis transmembrane conduction
regulator gene (CFTR). Cystic fibrosis (CF) is one
of the most frequent autosomal recessive
hereditary diseases in populations of European
origin (about 1 in 2500 newborns). The high
frequency of heterozygotes (1:25) is thought to
result from their selective advantage due to reduced
liability to epidemic diarrhea (cholera).