title: Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
abstract: To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in exon 5, are frameshift mutations, predicted to result in premature termination of the CFTR transcript. The third mutation is missense and occurs in exon 12 (D572N). The profile of mutations in this sample of Russian CF patients is particular, with two mutations in exon 13 (2143 del T and 2184 ins A), accounting for 12% of the non-delta F508 alleles.
authors.affiliation: Centre de Biogénétique, C.D.T.S., Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: N I
authors.initials: NI
authors.lastname: Kapranov
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: N V
authors.initials: NV
authors.lastname: Petrova
authors.forename: M P
authors.initials: MP
authors.lastname: Audrezet
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012426:Russia; D017422:Sequence Analysis, DNA
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator