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5. Methods for Screening in Cystic Fibrosis
Abstract
Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in Whites, with an incidence of approx 1 m 2500 live births and a carrier frequency of approx 1 in 25. Since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene m 1989 (13), molecular genetics laboratories throughout the world have endeavored to identify the mutations present in their population of CF-bearing chromosomes. Since the entire CFTR gene and its intron-exon boundaries have been sequenced, mutation analysis in CF has become relatively simple, although time consuming. Generally, a number of different methods are applied to mutation analysis, but all involve an imtial step of amplification of part of the gene by polymerase chain reaction (PCR) (4), or a derivative of it, such as amplification refractory mutation system (ARMS) (5).
Affiliation(s): (2) Pediatric Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK
Series: Methods in Molecular Medicine  |  Volume: 5  |  Pub. Date: Jul-19-1996  |  Page Range: 99-119  |  DOI: 10.1385/0-89603-346-5:99
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