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

p. 95-98.

Detalles Bibliográficos
Autores: 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.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2008
País:Brasil
Institución:Universidade Federal da Bahia (UFBA)
Repositorio:Repositório Institucional da UFBA
Idioma:inglés
OAI Identifier:oai:repositorio.ufba.br:ri/6404
Acceso en línea:http://www.repositorio.ufba.br/ri/handle/ri/6404
Access Level:acceso abierto
Palabra clave:Fetal hemoglobin
Sickle cell anemia
ßS-globin gene haplotypes
Locus control region
g-globin promoter
id BR_ea2adbc99bedeb2e7f012af7947c0076
oai_identifier_str oai:repositorio.ufba.br:ri/6404
network_acronym_str BR
network_name_str Brasil
repository_id_str
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
dc.creator.none.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.
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.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)
instacron:UFBA
instname_str Universidade Federal da Bahia (UFBA)
instacron_str UFBA
institution UFBA
reponame_str Repositório Institucional da UFBA
collection Repositório Institucional da UFBA
bitstream.url.fl_str_mv https://repositorio.ufba.br/bitstream/ri/6404/1/plugin-6764-2.pdf
https://repositorio.ufba.br/bitstream/ri/6404/2/license.txt
https://repositorio.ufba.br/bitstream/ri/6404/3/plugin-6764-2.pdf.txt
bitstream.checksum.fl_str_mv 8f18a86379e886236186d4f4a161dd3b
1b89a9a0548218172d7c829f87a0eab9
717a983d6a6f8e9cb585a521aef9f942
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)
repository.mail.fl_str_mv repositorio@ufba.br
_version_ 1853668564126400512
spelling 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/openAccessAdorno, 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.ORIGINALplugin-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 InstitucionalPUBhttps://repositorio.ufba.br/oai/requestrepositorio@ufba.bropendoar:19322022-08-08T16:17:24Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
score 15.198674

Similares en LA Referencia