Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/5746
Title: A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
Authors: Couto, Fábio David
Santos, Wendell Vilas Boas
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Dupuit, Marie France
Almeida, Mari Ney Tavares
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
Affilliation: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BAa, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Universidade Federal da Bahia. Salvador, BA, Brasil.
Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório de Hematologia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Abstract: The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the G20210A mutation at the 3' untranslated region (3'UTR) of the prothrombin gene may be considered to be genetic risk factors that contribute to the clinical heterogeneity in sickle cell disease. The current study investigated a group of sickle cell (SS) patients from Salvador-Bahia, Northeast Brazil in order to determine the prevalence of these polymorphisms, using the polymerase chain reaction (PCR) and restriction fragment length polymorphim (RFLP) techniques. Out of 69 SS patients diagnosed with the C677T MTHFR gene polymorphism, 13 (18.6%) were heterozygous and four (5.7%) homozygous. The G20210A mutation was not found in 50 SS patients investigated. These results became important once the C677T MTHFR gene polymorphism was found to be an independent risk factor for vascular disease, a common clinical event in sickle cell disease.
Keywords: Methylenetetrahydrofolate reductase (MTHFR)
Prothrombin gene
Sickle cell anemia
Salvador-Bahia, Brazil
DeCS: Regiões 3 não Traduzidas/genética
Anemia Falciforme
Metilenotetraidrofolato Redutase
NADPH2/genética
Mutação Puntual/genética
Polimorfismo de Fragmento de Restrição
Protrombina/genética
Doenças Vasculares/genética
Anemia Falciforme/complicações
Feminino
Humanos
Masculino
Fatores de Risco
Doenças Vasculares/etiologia
Issue Date: 2004
Citation: COUTO, F. D. et al. A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil. Hemoglobin, v. 28, n. 3, p. 237-241, Aug. 2004.
ISSN: 0363-0269
Copyright: open access
Appears in Collections:BA - IGM - Artigos de Periódicos

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