A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.

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

A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.

Detalhes bibliográficos
Autor(a) principal:	Couto, Fábio David
Data de Publicação:	2004
Outros Autores:	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
Tipo de documento:	Artigo
Idioma:	eng
Título da fonte:	Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo:	https://www.arca.fiocruz.br/handle/icict/5746
Resumo:	Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BAa, Brasil.

Metadados do item

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repository_id_str	2135
spelling	Couto, Fábio DavidSantos, Wendell Vilas BoasLyra, Isa MenezesZanette, Angela Maria DiasDupuit, Marie FranceAlmeida, Mari Ney TavaresReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2012-10-30T21:20:28Z2012-10-30T21:20:28Z2004COUTO, 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. 2004.0363-0269https://www.arca.fiocruz.br/handle/icict/5746engA C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação 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.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.Methylenetetrahydrofolate reductase (MTHFR)Prothrombin geneSickle cell anemiaSalvador-Bahia, BrazilRegiões 3 não Traduzidas/genéticaAnemia FalciformeMetilenotetraidrofolato RedutaseNADPH2/genéticaMutação Puntual/genéticaPolimorfismo de Fragmento de RestriçãoProtrombina/genéticaDoenças Vasculares/genéticaAnemia Falciforme/complicaçõesFemininoHumanosMasculinoFatores de RiscoDoenças Vasculares/etiologiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALCouto FD A C677T methylenetetrahydrofolate....pdfCouto FD A C677T methylenetetrahydrofolate....pdfapplication/pdf92136https://www.arca.fiocruz.br/bitstream/icict/5746/1/Couto%20FD%20A%20C677T%20methylenetetrahydrofolate....pdf51ecf73c86bed3d7ce410b62788c5912MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-82008https://www.arca.fiocruz.br/bitstream/icict/5746/2/license.txt06db3f0df647fd9ddff657403bbe0ee2MD52TEXTCouto FD A C677T methylenetetrahydrofolate....pdf.txtCouto FD A C677T methylenetetrahydrofolate....pdf.txtExtracted texttext/plain12046https://www.arca.fiocruz.br/bitstream/icict/5746/5/Couto%20FD%20A%20C677T%20methylenetetrahydrofolate....pdf.txt21b001113bf0f5743946e24d59c1950fMD55THUMBNAILCouto FD A C677T methylenetetrahydrofolate....pdf.jpgCouto FD A C677T methylenetetrahydrofolate....pdf.jpgGenerated Thumbnailimage/jpeg1612https://www.arca.fiocruz.br/bitstream/icict/5746/4/Couto%20FD%20A%20C677T%20methylenetetrahydrofolate....pdf.jpgef02b99adb731f0d6ef951da74768345MD54icict/57462023-03-15 14:32:57.349oai:www.arca.fiocruz.br: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Repositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:32:57Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
title	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
spellingShingle	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil. Couto, Fábio David Methylenetetrahydrofolate reductase (MTHFR) Prothrombin gene Sickle cell anemia Salvador-Bahia, Brazil 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
title_short	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
title_full	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
title_fullStr	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
title_full_unstemmed	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
title_sort	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
author	Couto, Fábio David
author_facet	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
author_role	author
author2	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
author2_role	author author author author author author author
dc.contributor.author.fl_str_mv	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
dc.subject.en.pt_BR.fl_str_mv	Methylenetetrahydrofolate reductase (MTHFR) Prothrombin gene Sickle cell anemia Salvador-Bahia, Brazil
topic	Methylenetetrahydrofolate reductase (MTHFR) Prothrombin gene Sickle cell anemia Salvador-Bahia, Brazil 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
dc.subject.decs.pt_BR.fl_str_mv	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
description	Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BAa, Brasil.
publishDate	2004
dc.date.issued.fl_str_mv	2004
dc.date.accessioned.fl_str_mv	2012-10-30T21:20:28Z
dc.date.available.fl_str_mv	2012-10-30T21:20:28Z
dc.type.status.fl_str_mv	info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv	info:eu-repo/semantics/article
format	article
status_str	publishedVersion
dc.identifier.citation.fl_str_mv	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.
dc.identifier.uri.fl_str_mv	https://www.arca.fiocruz.br/handle/icict/5746
dc.identifier.issn.none.fl_str_mv	0363-0269
identifier_str_mv	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. 0363-0269
url	https://www.arca.fiocruz.br/handle/icict/5746
dc.language.iso.fl_str_mv	eng
language	eng
dc.rights.driver.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.source.none.fl_str_mv	reponame:Repositório Institucional da FIOCRUZ (ARCA) instname:Fundação Oswaldo Cruz (FIOCRUZ) instacron:FIOCRUZ
instname_str	Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str	FIOCRUZ
institution	FIOCRUZ
reponame_str	Repositório Institucional da FIOCRUZ (ARCA)
collection	Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv	https://www.arca.fiocruz.br/bitstream/icict/5746/1/Couto%20FD%20A%20C677T%20methylenetetrahydrofolate....pdf https://www.arca.fiocruz.br/bitstream/icict/5746/2/license.txt https://www.arca.fiocruz.br/bitstream/icict/5746/5/Couto%20FD%20A%20C677T%20methylenetetrahydrofolate....pdf.txt https://www.arca.fiocruz.br/bitstream/icict/5746/4/Couto%20FD%20A%20C677T%20methylenetetrahydrofolate....pdf.jpg
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repository.name.fl_str_mv	Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv	repositorio.arca@fiocruz.br
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A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.

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