Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations

Author Bernardino, ALF Google Scholar
Ferri, A. Google Scholar
Passos-Bueno, M. R. Google Scholar
Kim, CEA Google Scholar
Nakaie, CMA Google Scholar
Gomes, CET Google Scholar
Damaceno, N. Google Scholar
Zatz, M. Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
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 Delta F508 mutation was found in 48.4% of the alleles, Another fifteen mutations (previously reported) mere 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.
Language English
Date 2000-03-01
Published in Genetic Testing. Larchmont: Mary Ann Liebert Inc Publ, v. 4, n. 1, p. 69-74, 2000.
ISSN 1090-6576 (Sherpa/Romeo, impact factor)
Publisher Mary Ann Liebert Inc Publ
Extent 69-74
Access rights Closed access
Type Article
Web of Science ID WOS:000087218800012

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