title: Identification of 12 novel mutations in the CFTR gene.
abstract: Over 200 mutations, besides the deletion delta F508, have been identified in the CFTR gene and are known to cause CF. In order to characterize the molecular defects of non delta F508 CF chromosomes of various French origin, we have combined the techniques of denaturing gradient gel electrophoresis (DGGE) and direct sequencing to screen for mutations in the whole coding sequence of the CFTR gene corresponding to the 27 exons and their exon-intron boundaries. This approach enabled us to identify 12 novel mutations which are described here. We have systematically tested a large number of other nucleotide changes distributed in the 27 exons, each of them was clearly detected. These data support the notion that the DGGE conditions we have defined for screening coding sequence of the CFTR gene allows the identification of most of, if not all, the CFTR gene mutations.
authors.affiliation: Centre de Biogénétique, Brest, France.
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: H
authors.initials: H
authors.lastname: Guillermit
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: G
authors.initials: G
authors.lastname: Rault
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D009838:Oligodeoxyribonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator