Document Type
Article
Rights
This item is available under a Creative Commons License for non-commercial use only
Disciplines
Human genetics
Abstract
Cystic fibrosis is the most common autosomal recessive disease in Caucasian populations and has a carrier frequency of 1 in 25 (1 ). The gene involved codes for the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane-associated protein involved in ion transport across the plasma membrane of epithelial cells. To date more than 1000 mutations have been described in this gene, and most are rare (2 ). By focusing on five common mutations it is possible to detect the diseasecausing mutation in 90% of Irish patients (3 ). The five mutations [and the percentages of Irish (3 ) and worldwide (2 ) cases] are F508del (77.4%, 66.0%), G551D (7.1%, 1.6%), R117H (2.7%, 0.3%), 621 1 GT (1.4%, 0.7%), and G542X (0.5%, 2.4%). Four of these fall into the severe class of mutations in which the mRNA is incorrectly spliced (621 1 GT), or in which the protein is not synthesized (G542X) or is blocked during processing (F508del), or its regulation is blocked (G551D).
Recommended Citation
Dempsey, E., Barton, D.,Ryan, F.X.:Detection of Five Common CFTR Mutations by Rapid-Cycle Real-Time Amplification Refractory Mutation System PCR. Clinical Chemistry, Vol.50, no.4, 2004.
Publication Details
Dempsey, E., Barton, D.,Ryan, F.X.:Detection of Five Common CFTR Mutations by Rapid-Cycle Real-Time Amplification Refractory Mutation System PCR. Clinical Chemistry, Vol.50, no.4, 2004.