title: 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 France.
abstract: In order to characterize the non-delta F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes in Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by the single strand conformation polymorphism (SSCP) technique followed by direct sequencing of the mutant DNAs. We identified 13 novel mutations (9 reported in this paper) and 4 novel rare nucleotide sequence variations. Forty different mutations including delta F508, located in 15 exons, account for only 91.2% of mutants in a population originating from Southern France, in contrast with a recent report on the Celtic population of Brittany demonstrating that 90% of mutations can be detected with only three mutations. We present a very large spectrum of different CF mutations identified in a small geographical area.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS UPR-9008, Montpellier, France.
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: M
authors.initials: M
authors.lastname: Laussel
authors.forename: M
authors.initials: M
authors.lastname: Desgeorges
authors.forename: M
authors.initials: M
authors.lastname: Giansily
authors.forename: J F
authors.initials: JF
authors.lastname: Culard
authors.forename: G
authors.initials: G
authors.lastname: Razakatsara
authors.forename: J
authors.initials: J
authors.lastname: Demaille
mesh_terms: D000483:Alleles; D003062:Codon / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis*; D005091:Exons; D016368:Frameshift Mutation; D005602:France; D005843:Geography; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D015183:Restriction Mapping
chemical_list: C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA