title: CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.
abstract: More than 600 mutations have been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and are known to cause cystic fibrosis (CF). This large number of mutations makes the search of the molecular defects in CF patients difficult. We have used the techniques of denaturing gradient gel electrophoresis (DGGE) and direct DNA sequencing to detect the mutations in 334 CF chromosomes mostly of French origin. The whole coding sequence of the CFTR gene corresponding to the 27 exons and their exon-intron boundaries was studied. 45 different mutations were identified. This method allowed us to detect the molecular defect in 90.5% of the mutant alleles and to report a novel mutation D979V.
authors.affiliation: Laboratoire de Biochimie, Hôpital Armand Trousseau, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Plouvier
authors.forename: E
authors.initials: E
authors.lastname: Cougoureux
authors.forename: A
authors.initials: A
authors.lastname: Sardet
authors.forename: G
authors.initials: G
authors.lastname: Tournier
authors.forename: P
authors.initials: P
authors.lastname: Aymard
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator