Causes of Cystic fibrosis

CFTR gene encodes the protein, Cystic fibrosis transmembrane conductance regulator in humans. CF (cystic fibrosis) is caused when the genomic sequence changes (mutation). The mutation in which three nucleotides get deleted is the commonest reason for the occurrence of CF. It accounts for 90% of the cystic fibrosis cases in the US. More than 1400 different mutations can result in CF.

Carriers of CF (people who show no external sign of cystic fibrosis but have a faulty set of CFTR gene) can pass it on to their children. Children who inherit two sets of defective genes from their parents who are both carriers will have cystic fibrosis.