title: Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. Online.
abstract: We have analyzed 39 unrelated cystic fibrosis (CF) families by denaturing gradient gel electrophoresis (DGGE) and direct sequencing in order to determine the spectrum of CF mutations in our population. This approach has allowed us to detect 72 out of the 78 CF chromosomes (92.3%). The DF508 mutation was found to be present in 51/78 (65.4%) CF chromosomes, in accordance with the predicted Northwest-Southeast gradient within the European population. Another 14 known mutations, and the novel 1341G-->A mutation were identified. Nine out of fifteen non DF508 mutations were present in a single chromosome. The 1341G-->A mutation, found in 2 unrelated patients, is a new mutation associated to severe phenotype, causing pancreatic insufficiency and chronic lung infections. Our data suggest a different distribution of non-DF508 mutations in our population when compared with previous studies carried out in Spanish CF families. Six out of the 14 non-F508 in our study were not present in a recent study carried out in 640 Spanish families with CE These six mutations account for 29.6% non DF508 chromosomes in our sample.
authors.affiliation: Area de Pediatria, Facultad de Medicina, Universidad de Valladolid, Spain.
authors.forename: J J
authors.initials: JJ
authors.lastname: Tellería
authors.forename: M J
authors.initials: MJ
authors.lastname: Alonso
authors.forename: C
authors.initials: C
authors.lastname: Calvo
authors.forename: M
authors.initials: M
authors.lastname: Alonso
authors.forename: A
authors.initials: A
authors.lastname: Blanco
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004587:Electrophoresis, Agar Gel / Q000379:methods; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D013030:Spain
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator