Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFPA |
Texto Completo: | http://repositorio.ufpa.br/jspui/handle/2011/4095 |
Resumo: | The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The observed frequency of 3.7 kb deletion in Saracura (8.5%) was consistent with the African origin of the population, with a certain degree of local differentiation and admixture with individuals of Caucasian ancestry, placed in evidence by the occurrence of - -(MED) deletion (1.2%), a common mutation in Mediterranean regions. As regards f-thalassemia, among the seven different mutations found in Saracura, three βºand two β+ mutations were of Mediterranean origin, and two β+ of African. Thus, only 28% of the local β-thalassemia mutations found in Saracura were of African origin. |
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2013-08-08T14:36:05Z2013-08-08T14:36:05Z2012-07CARDOSO, Greice Lemos; TAKANASHI, Silvania Yukiko Lins; GUERREIRO, João Farias. Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura. Genetics and Molecular Biology, São Paulo, v. 35, n. 3, p. 553-556, 2012, Epub 05 jul 2012. Disponível em: <http://www.scielo.br/pdf/gmb/v35n3/2011-303.pdf>. Acesso em: 17 jul. 2013. <http://dx.doi.org/10.1590/S1415-47572012005000041>.1415-4757http://repositorio.ufpa.br/jspui/handle/2011/4095The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The observed frequency of 3.7 kb deletion in Saracura (8.5%) was consistent with the African origin of the population, with a certain degree of local differentiation and admixture with individuals of Caucasian ancestry, placed in evidence by the occurrence of - -(MED) deletion (1.2%), a common mutation in Mediterranean regions. As regards f-thalassemia, among the seven different mutations found in Saracura, three βºand two β+ mutations were of Mediterranean origin, and two β+ of African. Thus, only 28% of the local β-thalassemia mutations found in Saracura were of African origin.engAnemia falciformeTalassemiaEscravoComunidade de Saracura - PASantarém - PAPará - EstadoAmazônia brasileiraInherited hemoglobin disorders in an Afro-Amazonian community: Saracurainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleCARDOSO, Greice de LemosTAKANASHI, Silvania Yukiko LinsGUERREIRO, João Fariasinfo: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/2011/4095/2/license_urlfd26723f8d7edacdb29e3f03465c3b03MD52license_textlicense_texttext/html; charset=utf-80http://repositorio.ufpa.br/oai/bitstream/2011/4095/3/license_textd41d8cd98f00b204e9800998ecf8427eMD53license_rdflicense_rdfapplication/rdf+xml; charset=utf-823599http://repositorio.ufpa.br/oai/bitstream/2011/4095/4/license_rdf9e2b7f6edbd693264102b96ece20428aMD54LICENSElicense.txtlicense.txttext/plain; charset=utf-81996http://repositorio.ufpa.br/oai/bitstream/2011/4095/5/license.txt4b350777eea7a4b1ae7cd9a06fd687a1MD55ORIGINALArtigo_InheritedHemoglobinDisorders.pdfArtigo_InheritedHemoglobinDisorders.pdfapplication/pdf451245http://repositorio.ufpa.br/oai/bitstream/2011/4095/1/Artigo_InheritedHemoglobinDisorders.pdf4fc4b83076aadccae1fdb1e822a7d434MD51TEXTArtigo_InheritedHemoglobinDisorders.pdf.txtArtigo_InheritedHemoglobinDisorders.pdf.txtExtracted texttext/plain21328http://repositorio.ufpa.br/oai/bitstream/2011/4095/6/Artigo_InheritedHemoglobinDisorders.pdf.txtf3bd20f1548b78acf987b04a55176a5fMD562011/40952019-05-23 08:11:45.867oai:repositorio.ufpa.br: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Repositório InstitucionalPUBhttp://repositorio.ufpa.br/oai/requestriufpabc@ufpa.bropendoar:21232019-05-23T11:11:45Repositório Institucional da UFPA - Universidade Federal do Pará (UFPA)false |
dc.title.pt_BR.fl_str_mv |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
title |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
spellingShingle |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura CARDOSO, Greice de Lemos Anemia falciforme Talassemia Escravo Comunidade de Saracura - PA Santarém - PA Pará - Estado Amazônia brasileira |
title_short |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
title_full |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
title_fullStr |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
title_full_unstemmed |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
title_sort |
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura |
author |
CARDOSO, Greice de Lemos |
author_facet |
CARDOSO, Greice de Lemos TAKANASHI, Silvania Yukiko Lins GUERREIRO, João Farias |
author_role |
author |
author2 |
TAKANASHI, Silvania Yukiko Lins GUERREIRO, João Farias |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
CARDOSO, Greice de Lemos TAKANASHI, Silvania Yukiko Lins GUERREIRO, João Farias |
dc.subject.por.fl_str_mv |
Anemia falciforme Talassemia Escravo Comunidade de Saracura - PA Santarém - PA Pará - Estado Amazônia brasileira |
topic |
Anemia falciforme Talassemia Escravo Comunidade de Saracura - PA Santarém - PA Pará - Estado Amazônia brasileira |
description |
The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The observed frequency of 3.7 kb deletion in Saracura (8.5%) was consistent with the African origin of the population, with a certain degree of local differentiation and admixture with individuals of Caucasian ancestry, placed in evidence by the occurrence of - -(MED) deletion (1.2%), a common mutation in Mediterranean regions. As regards f-thalassemia, among the seven different mutations found in Saracura, three βºand two β+ mutations were of Mediterranean origin, and two β+ of African. Thus, only 28% of the local β-thalassemia mutations found in Saracura were of African origin. |
publishDate |
2012 |
dc.date.issued.fl_str_mv |
2012-07 |
dc.date.accessioned.fl_str_mv |
2013-08-08T14:36:05Z |
dc.date.available.fl_str_mv |
2013-08-08T14:36:05Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
dc.identifier.citation.fl_str_mv |
CARDOSO, Greice Lemos; TAKANASHI, Silvania Yukiko Lins; GUERREIRO, João Farias. Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura. Genetics and Molecular Biology, São Paulo, v. 35, n. 3, p. 553-556, 2012, Epub 05 jul 2012. Disponível em: <http://www.scielo.br/pdf/gmb/v35n3/2011-303.pdf>. Acesso em: 17 jul. 2013. <http://dx.doi.org/10.1590/S1415-47572012005000041>. |
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http://repositorio.ufpa.br/jspui/handle/2011/4095 |
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1415-4757 |
identifier_str_mv |
CARDOSO, Greice Lemos; TAKANASHI, Silvania Yukiko Lins; GUERREIRO, João Farias. Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura. Genetics and Molecular Biology, São Paulo, v. 35, n. 3, p. 553-556, 2012, Epub 05 jul 2012. Disponível em: <http://www.scielo.br/pdf/gmb/v35n3/2011-303.pdf>. Acesso em: 17 jul. 2013. <http://dx.doi.org/10.1590/S1415-47572012005000041>. 1415-4757 |
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http://repositorio.ufpa.br/jspui/handle/2011/4095 |
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eng |
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eng |
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