Mutation analysis of the HFE gene in brazilian populations
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Digital do Instituto Evandro Chagas (Patuá) |
Texto Completo: | https://patua.iec.gov.br/handle/iec/456 |
Resumo: | We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 227 individuals from Brazil comprising 71 Caucasians, 91 racially mixed Caucasian African-derived Amerindians (both populations from Southeast Brazil), 85 African-derived subjects (from Northeast Brazil) and 75 Parakanã Indians. Allelic frequency of the mutation C. 845G6A (C282Y) was 1.4% in the Caucasian population, 1.1% in the African-derived population, 1.1% in the racially mixed normal controls and 0% in the Parakanã Indians. In the African-derived population, the C282Y mutation was present on chromosomes bearing the haplotype 6/1h according to Beutler and West (1997). Allelic frequency of the mutation C. 187C6G (H63D) was 16.3% in the Caucasian population, 7.5% in the African-derived population, 9.8% in the racially mixed controls and 0% in the Amerindians. The presence of these mutations in the African-derived population reflects the fact that these subjects may have undergone a non-identified racial admixture in their past history. The absence of both defects in the Amerindians suggests that these mutations have emerged after the migration of Polynesians to America, or that they may not have reached the Polynesian population until after the migration to America had occurred. |
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Agostinho, Marcela FBasseres, Daniela SBordin, SilvanaSoares, Manoel do Carmo PereiraMenezes, Raimundo CCosta, Fernando FArruda, Valder RSaad, Sara T2016-01-26T11:28:52Z2016-01-26T11:28:52Z1999AGOSTINHO, Marcela F. et al. Mutation analysis of the HFE gene in brazilian populations. Blood Cells, Molecules & Diseases, v. 25, n. 6, p. 324-326, Dec. Nov. 1999. DOI: https://doi.org/10.1006/bcmd.1999.0260.1079-9796https://patua.iec.gov.br/handle/iec/45610.1006/bcmd.1999.0260We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 227 individuals from Brazil comprising 71 Caucasians, 91 racially mixed Caucasian African-derived Amerindians (both populations from Southeast Brazil), 85 African-derived subjects (from Northeast Brazil) and 75 Parakanã Indians. Allelic frequency of the mutation C. 845G6A (C282Y) was 1.4% in the Caucasian population, 1.1% in the African-derived population, 1.1% in the racially mixed normal controls and 0% in the Parakanã Indians. In the African-derived population, the C282Y mutation was present on chromosomes bearing the haplotype 6/1h according to Beutler and West (1997). Allelic frequency of the mutation C. 187C6G (H63D) was 16.3% in the Caucasian population, 7.5% in the African-derived population, 9.8% in the racially mixed controls and 0% in the Amerindians. The presence of these mutations in the African-derived population reflects the fact that these subjects may have undergone a non-identified racial admixture in their past history. The absence of both defects in the Amerindians suggests that these mutations have emerged after the migration of Polynesians to America, or that they may not have reached the Polynesian population until after the migration to America had occurred.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Ministério da Saúde. Fundação Nacional de Saúde. Instituto Evandro Chagas. Belém, PA, Brasil.Ministério da Saúde. Fundação Nacional de Saúde. Instituto Evandro Chagas. Belém, PA, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.application/pdfengElsevierMutation analysis of the HFE gene in brazilian populationsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleHemocromatose / genéticaÍndios Sul-Americanos / genéticaBrazil (BR)info:eu-repo/semantics/openAccessreponame:Repositório Digital do Instituto Evandro Chagas (Patuá)instname:Instituto Evandro Chagas (IEC)instacron:IECORIGINALMutation analysis of the HFE gene in brazilian populations .pdfapplication/pdf24014https://patua.iec.gov.br/bitstreams/dd928e80-7c9b-4dd4-8d35-86819e37193d/download126df71226b2975bf553c585cb6ac74bMD51TEXTfile_1.pdf.txtfile_1.pdf.txtExtracted texttext/plain12963https://patua.iec.gov.br/bitstreams/010e0c93-a386-482f-8331-a6111e5dddda/download052965689872fca0e5c5dc3e99fb9880MD52Mutation analysis of the HFE gene in brazilian populations .pdf.txtMutation analysis of the HFE gene in brazilian populations .pdf.txtExtracted texttext/plain13052https://patua.iec.gov.br/bitstreams/ba7edf05-f547-4587-8c47-616c3091dda2/download9a158dc775199446bf6e35beb6b12f62MD57THUMBNAILfile_1.pdf.jpgfile_1.pdf.jpgIM Thumbnailimage/jpeg5458https://patua.iec.gov.br/bitstreams/e7b01178-5c49-46b4-b6b8-3156977bb6ca/download25e971dab51aa44ddc1adc795c0e40b1MD53Mutation analysis of the HFE gene in brazilian populations .pdf.jpgMutation analysis of the HFE gene in brazilian populations .pdf.jpgGenerated Thumbnailimage/jpeg7163https://patua.iec.gov.br/bitstreams/e6647274-c49b-4c21-ad8e-4e7aaa75f4a9/downloadcff6616b074d1365290caf2c8bb05fa4MD58LICENSElicense.txtlicense.txttext/plain; charset=utf-82182https://patua.iec.gov.br/bitstreams/f7ab4aa4-a7a1-4b1a-a15b-2fe3e5c2a16c/download11832eea31b16df8613079d742d61793MD56iec/4562022-10-20 21:14:49.95oai:patua.iec.gov.br:iec/456https://patua.iec.gov.brRepositório InstitucionalPUBhttps://patua.iec.gov.br/oai/requestclariceneta@iec.gov.br || Biblioteca@iec.gov.bropendoar:2022-10-20T21:14:49Repositório Digital do Instituto Evandro Chagas (Patuá) - Instituto Evandro Chagas (IEC)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 |
dc.title.pt_BR.fl_str_mv |
Mutation analysis of the HFE gene in brazilian populations |
title |
Mutation analysis of the HFE gene in brazilian populations |
spellingShingle |
Mutation analysis of the HFE gene in brazilian populations Agostinho, Marcela F Hemocromatose / genética Índios Sul-Americanos / genética Brazil (BR) |
title_short |
Mutation analysis of the HFE gene in brazilian populations |
title_full |
Mutation analysis of the HFE gene in brazilian populations |
title_fullStr |
Mutation analysis of the HFE gene in brazilian populations |
title_full_unstemmed |
Mutation analysis of the HFE gene in brazilian populations |
title_sort |
Mutation analysis of the HFE gene in brazilian populations |
author |
Agostinho, Marcela F |
author_facet |
Agostinho, Marcela F Basseres, Daniela S Bordin, Silvana Soares, Manoel do Carmo Pereira Menezes, Raimundo C Costa, Fernando F Arruda, Valder R Saad, Sara T |
author_role |
author |
author2 |
Basseres, Daniela S Bordin, Silvana Soares, Manoel do Carmo Pereira Menezes, Raimundo C Costa, Fernando F Arruda, Valder R Saad, Sara T |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Agostinho, Marcela F Basseres, Daniela S Bordin, Silvana Soares, Manoel do Carmo Pereira Menezes, Raimundo C Costa, Fernando F Arruda, Valder R Saad, Sara T |
dc.subject.decsPrimary.pt_BR.fl_str_mv |
Hemocromatose / genética Índios Sul-Americanos / genética Brazil (BR) |
topic |
Hemocromatose / genética Índios Sul-Americanos / genética Brazil (BR) |
description |
We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 227 individuals from Brazil comprising 71 Caucasians, 91 racially mixed Caucasian African-derived Amerindians (both populations from Southeast Brazil), 85 African-derived subjects (from Northeast Brazil) and 75 Parakanã Indians. Allelic frequency of the mutation C. 845G6A (C282Y) was 1.4% in the Caucasian population, 1.1% in the African-derived population, 1.1% in the racially mixed normal controls and 0% in the Parakanã Indians. In the African-derived population, the C282Y mutation was present on chromosomes bearing the haplotype 6/1h according to Beutler and West (1997). Allelic frequency of the mutation C. 187C6G (H63D) was 16.3% in the Caucasian population, 7.5% in the African-derived population, 9.8% in the racially mixed controls and 0% in the Amerindians. The presence of these mutations in the African-derived population reflects the fact that these subjects may have undergone a non-identified racial admixture in their past history. The absence of both defects in the Amerindians suggests that these mutations have emerged after the migration of Polynesians to America, or that they may not have reached the Polynesian population until after the migration to America had occurred. |
publishDate |
1999 |
dc.date.issued.fl_str_mv |
1999 |
dc.date.accessioned.fl_str_mv |
2016-01-26T11:28:52Z |
dc.date.available.fl_str_mv |
2016-01-26T11:28:52Z |
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 |
AGOSTINHO, Marcela F. et al. Mutation analysis of the HFE gene in brazilian populations. Blood Cells, Molecules & Diseases, v. 25, n. 6, p. 324-326, Dec. Nov. 1999. DOI: https://doi.org/10.1006/bcmd.1999.0260. |
dc.identifier.uri.fl_str_mv |
https://patua.iec.gov.br/handle/iec/456 |
dc.identifier.issn.-.fl_str_mv |
1079-9796 |
dc.identifier.doi.pt_BR.fl_str_mv |
10.1006/bcmd.1999.0260 |
identifier_str_mv |
AGOSTINHO, Marcela F. et al. Mutation analysis of the HFE gene in brazilian populations. Blood Cells, Molecules & Diseases, v. 25, n. 6, p. 324-326, Dec. Nov. 1999. DOI: https://doi.org/10.1006/bcmd.1999.0260. 1079-9796 10.1006/bcmd.1999.0260 |
url |
https://patua.iec.gov.br/handle/iec/456 |
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eng |
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eng |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Elsevier |
publisher.none.fl_str_mv |
Elsevier |
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