Heterogeneous ethnic distribution of the factor V leiden mutation
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFPA |
Texto Completo: | http://repositorio.ufpa.br/jspui/handle/2011/6131 |
Resumo: | Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis. |
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2014-12-01T13:13:40Z2014-12-01T13:13:40Z1999-06FRANCO, Rendrik F. et al. Heterogeneous ethnic distribution of the factor V leiden mutation. Genetics and Molecular Biology, São Paulo, v. 22, n. 2, p. 143-145, jun. 1999. Disponível em: <http://www.scielo.br/pdf/gmb/v22n2/0272.pdf>. Acesso em: 27 nov. 2014. <http://dx.doi.org/10.1590/S1415-47571999000200001>.1415-4757http://repositorio.ufpa.br/jspui/handle/2011/6131Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.engTrombose venosaMutaçãoPrevalênciaHeterogeneous ethnic distribution of the factor V leiden mutationinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFRANCO, Rendrik FrançaELION, JacquesSANTOS, Sidney Emanuel Batista dosARAÚJO, Amélia Goes deTAVELLA, Marli H.ZAGO, Marco Antonioinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFPAinstname:Universidade Federal do Pará (UFPA)instacron:UFPACC-LICENSElicense_urllicense_urltext/plain; charset=utf-849http://repositorio.ufpa.br/oai/bitstream/2011/6131/2/license_url4afdbb8c545fd630ea7db775da747b2fMD52license_textlicense_texttext/html; charset=utf-822302http://repositorio.ufpa.br/oai/bitstream/2011/6131/3/license_text23f63091ab682deaf673f6bd687eadb1MD53license_rdflicense_rdfapplication/rdf+xml; charset=utf-822190http://repositorio.ufpa.br/oai/bitstream/2011/6131/4/license_rdf19e8a2b57ef43c09f4d7071d2153c97dMD54LICENSElicense.txtlicense.txttext/plain; charset=utf-81704http://repositorio.ufpa.br/oai/bitstream/2011/6131/5/license.txt8d73ce52af4613a96b33573d09bea8c9MD55ORIGINALArtigo_HeterogeneousEthnicDistribution.pdfArtigo_HeterogeneousEthnicDistribution.pdfapplication/pdf22748http://repositorio.ufpa.br/oai/bitstream/2011/6131/1/Artigo_HeterogeneousEthnicDistribution.pdfaacd0e4e606423c05e2e3e3192679ae8MD51TEXTArtigo_HeterogeneousEthnicDistribution.pdf.txtArtigo_HeterogeneousEthnicDistribution.pdf.txtExtracted texttext/plain14747http://repositorio.ufpa.br/oai/bitstream/2011/6131/6/Artigo_HeterogeneousEthnicDistribution.pdf.txtc8d4d1faebb0cdfdbe8a2945b3c16e16MD562011/61312017-10-16 12:32:58.087oai:repositorio.ufpa.br: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ório InstitucionalPUBhttp://repositorio.ufpa.br/oai/requestriufpabc@ufpa.bropendoar:21232017-10-16T15:32:58Repositório Institucional da UFPA - Universidade Federal do Pará (UFPA)false |
dc.title.pt_BR.fl_str_mv |
Heterogeneous ethnic distribution of the factor V leiden mutation |
title |
Heterogeneous ethnic distribution of the factor V leiden mutation |
spellingShingle |
Heterogeneous ethnic distribution of the factor V leiden mutation FRANCO, Rendrik França Trombose venosa Mutação Prevalência |
title_short |
Heterogeneous ethnic distribution of the factor V leiden mutation |
title_full |
Heterogeneous ethnic distribution of the factor V leiden mutation |
title_fullStr |
Heterogeneous ethnic distribution of the factor V leiden mutation |
title_full_unstemmed |
Heterogeneous ethnic distribution of the factor V leiden mutation |
title_sort |
Heterogeneous ethnic distribution of the factor V leiden mutation |
author |
FRANCO, Rendrik França |
author_facet |
FRANCO, Rendrik França ELION, Jacques SANTOS, Sidney Emanuel Batista dos ARAÚJO, Amélia Goes de TAVELLA, Marli H. ZAGO, Marco Antonio |
author_role |
author |
author2 |
ELION, Jacques SANTOS, Sidney Emanuel Batista dos ARAÚJO, Amélia Goes de TAVELLA, Marli H. ZAGO, Marco Antonio |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
FRANCO, Rendrik França ELION, Jacques SANTOS, Sidney Emanuel Batista dos ARAÚJO, Amélia Goes de TAVELLA, Marli H. ZAGO, Marco Antonio |
dc.subject.por.fl_str_mv |
Trombose venosa Mutação Prevalência |
topic |
Trombose venosa Mutação Prevalência |
description |
Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis. |
publishDate |
1999 |
dc.date.issued.fl_str_mv |
1999-06 |
dc.date.accessioned.fl_str_mv |
2014-12-01T13:13:40Z |
dc.date.available.fl_str_mv |
2014-12-01T13:13:40Z |
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 |
FRANCO, Rendrik F. et al. Heterogeneous ethnic distribution of the factor V leiden mutation. Genetics and Molecular Biology, São Paulo, v. 22, n. 2, p. 143-145, jun. 1999. Disponível em: <http://www.scielo.br/pdf/gmb/v22n2/0272.pdf>. Acesso em: 27 nov. 2014. <http://dx.doi.org/10.1590/S1415-47571999000200001>. |
dc.identifier.uri.fl_str_mv |
http://repositorio.ufpa.br/jspui/handle/2011/6131 |
dc.identifier.issn.none.fl_str_mv |
1415-4757 |
identifier_str_mv |
FRANCO, Rendrik F. et al. Heterogeneous ethnic distribution of the factor V leiden mutation. Genetics and Molecular Biology, São Paulo, v. 22, n. 2, p. 143-145, jun. 1999. Disponível em: <http://www.scielo.br/pdf/gmb/v22n2/0272.pdf>. Acesso em: 27 nov. 2014. <http://dx.doi.org/10.1590/S1415-47571999000200001>. 1415-4757 |
url |
http://repositorio.ufpa.br/jspui/handle/2011/6131 |
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eng |
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eng |
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openAccess |
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