title: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
abstract: The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequences of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A---> T). Each has only been found once in this sample of CF patients.
authors.affiliation: Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: B
authors.initials: B
authors.lastname: Mercier
mesh_terms: D000483:Alleles; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006801:Humans; D007558:Italy; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator