Document Type

Article

Rights

This item is available under a Creative Commons License for non-commercial use only

Disciplines

Human genetics

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.

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 disease causing mutation in 90% of patients (3 )

DOI

10.1373/clinchem.2003.030445

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