Cystic fibrosis

Cystic fibrosis (CF), the most common life-shortening autosomal recessive disorder in populations of European origin, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. 1 Tsui LC The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med. 1995; 151: S47-S53 Crossref PubMed Google Scholar The CFTR gene encodes a protein of 1480 aminoacid residues that functions as a cAMP-regulated chloride channel in the apical membrane of epithelial cells. Cloning of the gene in 1989 2 Kerem B Rommens JM Buchanan JA et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989; 245: 1073-1080 Crossref PubMed Scopus (3248) Google Scholar significantly advanced our understanding of CF cell biology and pathophysiology, permitting more precise genetic testing and novel treatment approaches.