Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

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dc.contributor.authorRodriguez, David Enrique Aguilar
dc.contributor.authorLima, Carmen Silvia Passos
dc.contributor.authorLourenço, Gustavo Jacob
dc.contributor.authorFigueiredo, Maria Stella [UNIFESP]
dc.contributor.authorCarneiro, Jorge David Aivazoglu
dc.contributor.authorTone, Luiz Gonzaga
dc.contributor.authorLlerena Jr., Juan Clinton
dc.contributor.authorToscano, Raquel Alves
dc.contributor.authorBrandalise, Silvia
dc.contributor.authorPinto Júnior, Walter
dc.contributor.authorCosta, Fernando Ferreira
dc.contributor.authorBertuzzo, Carmen Sílvia
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionFundação Oswaldo Cruz
dc.contributor.institutionUniversidade de Brasília
dc.contributor.institutionCentro Boldrini
dc.date.accessioned2015-06-14T13:31:25Z
dc.date.available2015-06-14T13:31:25Z
dc.date.issued2005-01-01
dc.description.abstractFanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P) gene mutations. RESULTS: Mutations in FANCA and FANCC genes were identified in 6 (27.3%) and 14 (63.6%) out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1%). The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T) revealed that they were present in 18.2% and 15.9% of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence: delta322G (11.4%), W22X (9.1%), Q13X (2.3%), L554P (2.3%), and R548X (2.3%) of total FA alleles. CONCLUSION: These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil.en
dc.description.affiliationUniversidade Estadual de Campinas
dc.description.affiliationUniversidade Federal de São Paulo (UNIFESP)
dc.description.affiliationUniversidade de São Paulo
dc.description.affiliationFundação Oswaldo Cruz
dc.description.affiliationUniversidade de Brasília
dc.description.affiliationCentro Boldrini
dc.description.affiliationUnifespUNIFESP, EPM, São Paulo
dc.description.sourceSciELO
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent205-209
dc.identifierhttp://dx.doi.org/10.1590/S1415-47572005000200004
dc.identifier.citationGenetics and Molecular Biology. Sociedade Brasileira de Genética, v. 28, n. 2, p. 205-209, 2005.
dc.identifier.doi10.1590/S1415-47572005000200004
dc.identifier.fileS1415-47572005000200004.pdf
dc.identifier.issn1415-4757
dc.identifier.scieloS1415-47572005000200004
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/2379
dc.identifier.wosWOS:000230929200004
dc.language.isoeng
dc.publisherSociedade Brasileira de Genética
dc.relation.ispartofGenetics and Molecular Biology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFanconi anaemiaen
dc.subjectDEB testen
dc.subjectmolecular diagnosisen
dc.subjectFANCAen
dc.subjectFANCCen
dc.titleMolecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemiaen
dc.typeinfo:eu-repo/semantics/article
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