Cystic fibrosis

Cystic fibrosis is caused by mutations in the cystic fibrosis
transmembrane regulator (CFTR) gene located on the long
arm of chromosome 7, which contains 27 exons. Approximately
700 mutations have been described, many of which are
“private” mutations restricted to a particular lineage.
Approximately half the mutations are “mis-sense” (i.e. the
protein product is full length but contains an amino acid
substitution). The commonest single mutation in CF is a
deletion known as F508 that accounts for at least 70% of cystic
fibrosis mutations in northern Europeans.