title: [Cystic fibrosis gene mutations in the West of France: clinical application].
abstract: The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the cystic fibrosis phenotype when both alleles are mutated, was cloned and sequenced in 1989. Since then, more than 400 mutations have been reported in the gene, although most of these are rare. We have systematically analysed the entire coding sequence of the CFTR gene in a cohort of patients originating from the West of France (Caen, Brest and Nantes). More than 450 CF children, 914 chromosomes in all, have been exhaustively studied in the three centers. We have been able to characterize more than 90% of the mutations, respectively 93.5%, 99% and 95.8%. Despite the large diversity in the CFTR mutations occurring in CF patients from this area, these results can help to improve genetic counselling, prenatal diagnosis as well as our understanding of the molecular basis of the pathophysiology of cystic fibrosis.
authors.affiliation: Centre de biogénétique, Centre départemental de transfusion sanguine, Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: G
authors.initials: G
authors.lastname: Travert
authors.forename: M G
authors.initials: MG
authors.lastname: Le Roux
authors.forename: D
authors.initials: D
authors.lastname: Laroche
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: J P
authors.initials: JP
authors.lastname: Moisan
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005602:France / Q000453:epidemiology / Q000208:ethnology; D006801:Humans; D009154:Mutation
vernacular_title: Les mutations du gène de la mucoviscidose dans l'ouest de la France: application clinique.