title: Analysis of 16 cystic fibrosis mutations in Mexican patients.
abstract: We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation delta F508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot with allele-specific oligonucleotide probes to detect 15 additional common mutations in the Caucasian population. A frequency of 45% for delta F508 was found, making it the most common in our sample of Mexican patients. Another five mutations (G542X, 3,849 + 10 kb C-->T, N1303K, SN549N, and 621 + 1 G-->T) were detected, and those accounted for 11.25%. The remaining mutations (43.75%) were undetectable with the methodology used.
authors.affiliation: Unidad de Laboratorios de Ingeniería y Expresíon Genéticas, Departamento de Bioquímica, Facultad de Medicina de la Universidad Autónoma de Nuevo León, Monterrey, México.
authors.forename: C
authors.initials: C
authors.lastname: Villalobos-Torres
authors.forename: A
authors.initials: A
authors.lastname: Rojas-Martínez
authors.forename: E
authors.initials: E
authors.lastname: Villareal-Castellanos
authors.forename: J M
authors.initials: JM
authors.lastname: Cantú
authors.forename: F J
authors.initials: FJ
authors.lastname: Sánchez-Anzaldo
authors.forename: R K
authors.initials: RK
authors.lastname: Saiki
authors.forename: H A
authors.initials: HA
authors.lastname: Barrera-Saldaña
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008800:Mexico; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator