title: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
abstract: Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by mutations in the CF transmembrane conductance regulator gene (CFTR). More than 500 molecular defects have been reported to date. The distribution of these mutations is both heterogeneous and population related. In Mediterranean populations, 20-30% of CF alleles remain unidentified. We have studied a sample of 39 CF patients of Tunisian origin and have used a GC clamp DGGE assay to scan the CFTR gene. Two novel mutations have been found, but we have been unsuccessful in finding any mutation in 40% of these alleles. These results suggest that, in this Mediterranean population, additional mutations may lie elsewhere in the promoter region or in introns not yet analyzed.
authors.affiliation: Hôpital d'Enfants, Service de Biochimie, Tunis, Tunisie.
authors.forename: T
authors.initials: T
authors.lastname: Messaoud
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: E
authors.initials: E
authors.lastname: Denamur
authors.forename: O
authors.initials: O
authors.lastname: Pascaud
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: S
authors.initials: S
authors.lastname: Fattoum
authors.forename: J
authors.initials: J
authors.lastname: Elion
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 / Q000737:chemistry / Q000235:genetics*; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014416:Tunisia
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator