Mutation analysis in 600 French cystic fibrosis patients.
Open Access
- 1 July 1994
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (7) , 541-544
- https://doi.org/10.1136/jmg.31.7.541
Abstract
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%).Keywords
This publication has 29 references indexed in Scilit:
- Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern FranceHuman Molecular Genetics, 1993
- Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) geneHuman Molecular Genetics, 1993
- Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8Human Molecular Genetics, 1993
- Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding FoldsGenomics, 1993
- Molecular characterization of a frameshift mutation in exon 19 of the CFTR geneHuman Mutation, 1993
- A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screeningHuman Molecular Genetics, 1992
- Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosisAmerican Journal of Medical Genetics, 1992
- Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypesHuman Mutation, 1992
- A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulatorHuman Mutation, 1992
- A candidate for the cystic fibrosis locus isolated by selection for methylation-free islandsNature, 1987