title: Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.
abstract: We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of CFTR variants of T-tract length of intron 8 (IVS8 Tn) was also investigated. This analysis enabled the detection of 232/320 CF mutations (72.2%) and complete genotyping of 61% of the patients. The deltaF508 mutation was found in 48.4% of the alleles. Another fifteen mutations (previously reported) were detected: G542X, R1162X, N1303K, R334W, W1282X, G58E, L206W, R553X, 621+1G-->T, V232D, 1717-1G-->A, 2347 delG, R851L, 2789+5G-->A, and W1089X. Five novel mutations were identified, V201M (exon 6a), Y275X (exon 6b), 2686 insT (exon 14a), 3171 delC (exon 17a), and 3617 delGA (exon 19). These results contribute to the molecular characterization of CF in the Brazilian population. In addition, the identification of the novel mutation Y275X allowed prenatal diagnosis in a high-risk fetus.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: A L
authors.initials: AL
authors.lastname: Bernardino
authors.forename: A
authors.initials: A
authors.lastname: Ferri
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: C E
authors.initials: CE
authors.lastname: Kim
authors.forename: C M
authors.initials: CM
authors.lastname: Nakaie
authors.forename: C E
authors.initials: CE
authors.lastname: Gomes
authors.forename: N
authors.initials: N
authors.lastname: Damaceno
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000483:Alleles; D044383:Black People / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D002875:Chromosomes / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D020180:Heteroduplex Analysis; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011296:Prenatal Diagnosis; D044469:Racial Groups / Q000235:genetics; D044465:White People / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator