ABSTRACT
Cystic fibrosis (CF) is an autosomal recessive disease, affecting 1 infant in 2500 in the UK. In 1989 the CF gene was identified on the long arm of chromosome 7, and the gene product is a chloride channel-the cystic fibrosis transmembrane conductance regulator (CFTR). The commonest mutation in CF is a deletion of a phenylalanine residue at position 508 (delta F508) and this accounts for 70% of CF mutations in northern Europe and North America.
