Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations

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dc.contributor.authorBernardino, ALF
dc.contributor.authorFerri, A.
dc.contributor.authorPassos-Bueno, M. R.
dc.contributor.authorKim, CEA
dc.contributor.authorNakaie, CMA
dc.contributor.authorGomes, CET
dc.contributor.authorDamaceno, N.
dc.contributor.authorZatz, M.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T12:31:01Z
dc.date.available2016-01-24T12:31:01Z
dc.date.issued2000-03-01
dc.description.abstractWe 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.en
dc.description.affiliationUniv São Paulo, Inst Biociencias, Dept Biol, BR-05508900 São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Ctr Estudos Genoma Human, Dept Biol, BR-05508900 São Paulo, Brazil
dc.description.affiliationUNIFESP, Escola Paulista Med, Dept Pneumol, São Paulo, Brazil
dc.description.affiliationSanta Casa Misericordia, Dept Pediat, São Paulo, Brazil
dc.description.affiliationUnifespUNIFESP, Escola Paulista Med, Dept Pneumol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent69-74
dc.identifierhttp://dx.doi.org/10.1089/109065700316516
dc.identifier.citationGenetic Testing. Larchmont: Mary Ann Liebert Inc Publ, v. 4, n. 1, p. 69-74, 2000.
dc.identifier.doi10.1089/109065700316516
dc.identifier.issn1090-6576
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/26264
dc.identifier.wosWOS:000087218800012
dc.language.isoeng
dc.publisherMary Ann Liebert Inc Publ
dc.relation.ispartofGenetic Testing
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.titleMolecular analysis in Brazilian cystic fibrosis patients reveals five novel mutationsen
dc.typeinfo:eu-repo/semantics/article
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