Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients

Detalhes bibliográficos
Autor(a) principal: Adorno, Elisângela Vitória
Data de Publicação: 2008
Outros Autores: Moura Neto, José Pereira de, Lyra, Isa Menezes, Zanette, Angela Maria Dias, Santos, L. F. O., Seixas, Magda Oliveira, Reis, Mitermayer Galvão dos, Gonçalves, Marilda de Souza
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
DOI: 10.1590/s0100-879x2008005000002
Texto Completo: https://www.arca.fiocruz.br/handle/icict/6182
Resumo: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, Brasil.
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spelling Adorno, Elisângela VitóriaMoura Neto, José Pereira deLyra, Isa MenezesZanette, Angela Maria DiasSantos, L. F. O.Seixas, Magda OliveiraReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2013-01-14T18:31:39Z2013-01-14T18:31:39Z2008ADORNO, Elisângela Vitória et al. Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients. Brazilian Journal of Medical and Biological Research, v. 41, n. 2, p. 95-98, Feb. 2008.0100-879Xhttps://www.arca.fiocruz.br/handle/icict/618210.1590/s0100-879x2008005000002engSequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patientsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia da Bahia. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. 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 / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, Brasil.The fetal hemoglobin (HbF) levels and betaS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2 percent) patients had CAR/Ben genotype; 36 (28.8 percent) Ben/Ben; 18 (14.4 percent) CAR/CAR; 2 (1.6 percent) CAR/Atypical; 2 (1.6 percent) Ben/Cam; 1 (0.8 percent) CAR/Cam; 1 (0.8 percent) CAR/Arab-Indian, and 1 (0.8 percent) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.Sickle cell anemiaßS-globin gene haplotypesLocus control regionγ-globin promoterAnemia Falciforme/genéticaDesoxirribonuclease I/genéticaGlobinas/genéticaRegião de Controle de Locus Gênico/genéticaHemoglobina Fetal/análiseMarcadores Genéticos/genéticaGenótipoHaplotiposRegiões Promotoras Genéticas/genéticaAdultoCriançaPré-EscolarHumanosMeia-IdadeResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALAdorno, E.V. et al Sequence change in the....pdfAdorno, E.V. et al Sequence change in the....pdfapplication/pdf1027902https://www.arca.fiocruz.br/bitstream/icict/6182/1/Adorno%2c%20E.V.%20et%20al%20Sequence%20change%20in%20the....pdf6f76839b978b7826a8a5282b5e836460MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/6182/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTAdorno, E.V. et al Sequence change in the....pdf.txtAdorno, E.V. et al Sequence change in the....pdf.txtExtracted texttext/plain14784https://www.arca.fiocruz.br/bitstream/icict/6182/5/Adorno%2c%20E.V.%20et%20al%20Sequence%20change%20in%20the....pdf.txtb70d4924d80fa51953a18fa2b0adb68dMD55THUMBNAILAdorno, E.V. et al Sequence change in the....pdf.jpgAdorno, E.V. et al Sequence change in the....pdf.jpgGenerated Thumbnailimage/jpeg2322https://www.arca.fiocruz.br/bitstream/icict/6182/4/Adorno%2c%20E.V.%20et%20al%20Sequence%20change%20in%20the....pdf.jpg82ba00d783b56a32aa9853ffaa1505feMD54icict/61822023-03-29 15:05:55.266oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-29T18:05:55Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
title Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
spellingShingle Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
Adorno, Elisângela Vitória
Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
γ-globin promoter
Anemia Falciforme/genética
Desoxirribonuclease I/genética
Globinas/genética
Região de Controle de Locus Gênico/genética
Hemoglobina Fetal/análise
Marcadores Genéticos/genética
Genótipo
Haplotipos
Regiões Promotoras Genéticas/genética
Adulto
Criança
Pré-Escolar
Humanos
Meia-Idade
Research Support, Non-U.S. Gov't
title_short Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
title_full Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
title_fullStr Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
title_full_unstemmed Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
title_sort Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
author Adorno, Elisângela Vitória
author_facet Adorno, Elisângela Vitória
Moura Neto, José Pereira de
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Santos, L. F. O.
Seixas, Magda Oliveira
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
author_role author
author2 Moura Neto, José Pereira de
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Santos, L. F. O.
Seixas, Magda Oliveira
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Adorno, Elisângela Vitória
Moura Neto, José Pereira de
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Santos, L. F. O.
Seixas, Magda Oliveira
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
dc.subject.en.pt_BR.fl_str_mv Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
γ-globin promoter
topic Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
γ-globin promoter
Anemia Falciforme/genética
Desoxirribonuclease I/genética
Globinas/genética
Região de Controle de Locus Gênico/genética
Hemoglobina Fetal/análise
Marcadores Genéticos/genética
Genótipo
Haplotipos
Regiões Promotoras Genéticas/genética
Adulto
Criança
Pré-Escolar
Humanos
Meia-Idade
Research Support, Non-U.S. Gov't
dc.subject.decs.pt_BR.fl_str_mv Anemia Falciforme/genética
Desoxirribonuclease I/genética
Globinas/genética
Região de Controle de Locus Gênico/genética
Hemoglobina Fetal/análise
Marcadores Genéticos/genética
Genótipo
Haplotipos
Regiões Promotoras Genéticas/genética
Adulto
Criança
Pré-Escolar
Humanos
Meia-Idade
Research Support, Non-U.S. Gov't
description Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, Brasil.
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2013-01-14T18:31:39Z
dc.date.available.fl_str_mv 2013-01-14T18:31:39Z
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 ADORNO, Elisângela Vitória et al. Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients. Brazilian Journal of Medical and Biological Research, v. 41, n. 2, p. 95-98, Feb. 2008.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/6182
dc.identifier.issn.none.fl_str_mv 0100-879X
dc.identifier.doi.none.fl_str_mv 10.1590/s0100-879x2008005000002
identifier_str_mv ADORNO, Elisângela Vitória et al. Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients. Brazilian Journal of Medical and Biological Research, v. 41, n. 2, p. 95-98, Feb. 2008.
0100-879X
10.1590/s0100-879x2008005000002
url https://www.arca.fiocruz.br/handle/icict/6182
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language eng
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instacron:FIOCRUZ
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reponame_str Repositório Institucional da FIOCRUZ (ARCA)
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