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

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

Autor Rodriguez, David Enrique Aguilar Google Scholar
Lima, Carmen Silvia Passos Google Scholar
Lourenço, Gustavo Jacob Google Scholar
Figueiredo, Maria Stella Autor UNIFESP Google Scholar
Carneiro, Jorge David Aivazoglu Google Scholar
Tone, Luiz Gonzaga Google Scholar
Llerena Jr., Juan Clinton Google Scholar
Toscano, Raquel Alves Google Scholar
Brandalise, Silvia Google Scholar
Pinto Júnior, Walter Google Scholar
Costa, Fernando Ferreira Google Scholar
Bertuzzo, Carmen Sílvia Google Scholar
Instituição Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Fundação Oswaldo Cruz
Universidade de Brasília
Centro Boldrini
Resumo Fanconi 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.
Palavra-chave Fanconi anaemia
DEB test
molecular diagnosis
FANCA
FANCC
Idioma Inglês
Financiador Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Data de publicação 2005-01-01
Publicado em Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 28, n. 2, p. 205-209, 2005.
ISSN 1415-4757 (Sherpa/Romeo, fator de impacto)
Publicador Sociedade Brasileira de Genética
Extensão 205-209
Fonte http://dx.doi.org/10.1590/S1415-47572005000200004
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000230929200004
SciELO S1415-47572005000200004 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/2379

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