Consulta: subjectFacets:"FANCA"
Registros recuperados: 2
Data/hora: 02/06/2024 00:52:26

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia
Provedor de dados: Genetics and Molecular Biology
Autores: Rodriguez,David Enrique Aguilar; Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Figueiredo,Maria Estela; Carneiro,Jorge David Aivazoglu; Tone,Luiz Gonzaga; Llerena Jr.,Juan Clinton; Toscano,Raquel Alves; Brandalise,Silvia; Pinto Júnior,Walter; Costa,Fernando Ferreira; Bertuzzo,Carmen Sílvia.
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 -&gt; T,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anaemia; DEB test; Molecular diagnosis; FANCA; FANCC.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004

Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Magdalena,N.; Pilonetto,D.V.; Bitencourt,M.A.; Pereira,N.F.; Ribeiro,R.C.; Jeng,M.; Pasquini,R.
Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anemia; FANCA; 3788-3790del mutation; Genetic screening.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000500003