Mutation analysis in 600 French cystic fibrosis patients

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of t...

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Bibliographic Details
Published in:Journal of medical genetics 1994-07, Vol.31 (7), p.541-544
Main Authors: Chevalier-Porst, F, Bonardot, A M, Gilly, R, Chazalette, J P, Mathieu, M, Bozon, D
Format: Article
Language:English
Subjects:
Alleles
Base Sequence
Biological and medical sciences
chloride channels
cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
DNA Probes
Exons
France
Gastroenterology. Liver. Pancreas. Abdomen
genes
Haplotypes
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
man
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Other diseases. Semiology
Polymerase Chain Reaction
transmembrane conductance regulator
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Summary:The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X (3.3%), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184delA + 2183 A-->G (0.9%), and R553X (0.8%).
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.31.7.541