17th February 2025

Overview of CF

Cystic fibrosis is a genetic condition characterised by an abnormality in salt and water transport, resulting in thick, sticky mucus that can block the lungs and digestive system.

Genetics of CF

Cystic fibrosis has an autosomal recessive inheritance caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) (chromosome 7), which is a chloride channel in cells that line the lungs, pancreas, digestive tract, sweat glands and reproductive organs.

There are over 200 genetic mutations associated with CF, but the commonest is deletion of the 508th amino acid (∆508).