Sequence change in the HS2-LCR and Gγ-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, M. G., Goncalves, M. S.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/6404
Resumo: p. 95-98.
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spelling Adorno, Elisângela VitóriaMoura Neto, José Pereira deLyra, Isa MenezesZanette, Angela Maria DiasSantos, L. F. O.Seixas, Magda OliveiraReis, M. G.Goncalves, M. S.Adorno, Elisângela VitóriaMoura Neto, José Pereira deLyra, Isa MenezesZanette, Angela Maria DiasSantos, L. F. O.Seixas, Magda OliveiraReis, M. G.Goncalves, M. S.2012-07-11T14:22:05Z20081414-431Xhttp://www.repositorio.ufba.br/ri/handle/ri/6404v. 41, n. 2p. 95-98.The fetal hemoglobin (HbF) levels and ßS-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%) patients had CAR/Ben genotype; 36 (28.8%) Ben/Ben; 18 (14.4%) CAR/CAR; 2 (1.6%) CAR/Atypical; 2 (1.6%) Ben/Cam; 1 (0.8%) CAR/Cam; 1 (0.8%) CAR/Arab-Indian, and 1 (0.8%) 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.Submitted by JURANDI DE SOUZA SILVA (jssufba@hotmail.com) on 2012-07-11T14:22:05Z No. of bitstreams: 1 plugin-6764-2.pdf: 498632 bytes, checksum: 8f18a86379e886236186d4f4a161dd3b (MD5)Made available in DSpace on 2012-07-11T14:22:05Z (GMT). No. of bitstreams: 1 plugin-6764-2.pdf: 498632 bytes, checksum: 8f18a86379e886236186d4f4a161dd3b (MD5) Previous issue date: 2008http://dx.doi.org/10.1590/S0100-879X2008005000002reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAFetal hemoglobinSickle cell anemiaßS-globin gene haplotypesLocus control regiong-globin promoterSequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patientsBrazilian Journal of Medical and Biological Researchinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01enginfo:eu-repo/semantics/openAccessORIGINALplugin-6764-2.pdfplugin-6764-2.pdfapplication/pdf498632https://repositorio.ufba.br/bitstream/ri/6404/1/plugin-6764-2.pdf8f18a86379e886236186d4f4a161dd3bMD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/6404/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTplugin-6764-2.pdf.txtplugin-6764-2.pdf.txtExtracted texttext/plain14704https://repositorio.ufba.br/bitstream/ri/6404/3/plugin-6764-2.pdf.txt717a983d6a6f8e9cb585a521aef9f942MD53ri/64042022-08-08 13:17:24.86oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-08-08T16:17:24Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
dc.title.alternative.pt_BR.fl_str_mv Brazilian Journal of Medical and Biological Research
title Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
spellingShingle Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
Adorno, Elisângela Vitória
Fetal hemoglobin
Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
g-globin promoter
title_short Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
title_full Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
title_fullStr Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
title_full_unstemmed Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients
title_sort Sequence change in the HS2-LCR and Gγ-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, M. G.
Goncalves, M. S.
author_role author
author2 Moura Neto, José Pereira de
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Santos, L. F. O.
Seixas, Magda Oliveira
Reis, M. G.
Goncalves, M. S.
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, M. G.
Goncalves, M. S.
Adorno, Elisângela Vitória
Moura Neto, José Pereira de
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Santos, L. F. O.
Seixas, Magda Oliveira
Reis, M. G.
Goncalves, M. S.
dc.subject.por.fl_str_mv Fetal hemoglobin
Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
g-globin promoter
topic Fetal hemoglobin
Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
g-globin promoter
description p. 95-98.
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2012-07-11T14:22:05Z
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.uri.fl_str_mv http://www.repositorio.ufba.br/ri/handle/ri/6404
dc.identifier.issn.none.fl_str_mv 1414-431X
dc.identifier.number.pt_BR.fl_str_mv v. 41, n. 2
identifier_str_mv 1414-431X
v. 41, n. 2
url http://www.repositorio.ufba.br/ri/handle/ri/6404
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.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S0100-879X2008005000002
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
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