Mutation analysis in 600 French cystic fibrosis patients. Issue 7 (July 1994)

• Record Type: Journal Article
• Authors: Chevalier-Porst, F; Bonardot, A M; Gilly, R; Chazalette, J P; Mathieu, M; Bozon, D
• Is Part Of: Journal of medical genetics. Volume 31:Issue 7(1994)
• Page Start: 541
• Page End: 544
• Publication Date: 1994-07
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.7.541
• Languages: English
• ISSNs: 1468-6244

Abstract

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%).