The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro

Detalhes bibliográficos
Autor(a) principal: Schreiber, R
Data de Publicação: 2001
Outros Autores: Gonçalves, Marilda de Souza, Junqueira, M. L, Saad, Sara Terezinha Olalla, Krieger, J. E, Costa, Fernando Ferreira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/19353
Resumo: Marilda de Souza Gonçalves “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
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spelling Schreiber, RGonçalves, Marilda de SouzaJunqueira, M. LSaad, Sara Terezinha OlallaKrieger, J. ECosta, Fernando Ferreira2017-06-08T18:52:13Z2017-06-08T18:52:13Z2001SCHREIBER, R. et al. The Ag-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro. Brazilian Journal of Medical and Biological Research, v. 34, p. 489-492, 2001.0100-879Xhttps://www.arca.fiocruz.br/handle/icict/19353Marilda de Souza Gonçalves “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.FAPESP and CNPq.Universidade Estadual de Campinas. Hemocentro. Campinas, SP, BrasilUniversidade Estadual de Campinas. Hemocentro. Campinas, SP, BrasilUniversidade de São Paulo. Faculdade de Medicina. Instituto do Coração. Laboratório de Biologia Molecular. São Paulo, SP, BrasilUniversidade Estadual de Campinas. Hemocentro. Campinas, SP, BrasilUniversidade de São Paulo. Faculdade de Medicina. Instituto do Coração. Laboratório de Biologia Molecular. São Paulo, SP, BrasilUniversidade Estadual de Campinas. Hemocentro. Campinas, SP, BrasilHereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of g-globin genes persists into adult life. Several point mutations have been associated with the increased g-globin gene promoter activity. We evaluated the -195 (C®G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the increased promoter activity observed in vivo could not be reproduced in vitro under the conditions employed, suggesting that other factors may be involved in the overexpression of the g-globin gene containing the -195 (C®G) mutation. Furthermore, this is the first time that the -195 (C®G) mutation of the Ag-globin gene has been evaluated by in vitro gene expressionengAssociação Brasileira de Divulgação CientíficaHemoglobina fetalDoença hereditáriaMutaçãoFetal hemoglobinHereditary persistence of fetal hemoglobinHPFHTransient expressionHemoglobina fetalDoença hereditáriaMutaçãoThe Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitroinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/19353/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALScheiber R The a gamma -195....pdfScheiber R The a gamma 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dc.title.pt_BR.fl_str_mv The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
title The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
spellingShingle The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
Schreiber, R
Hemoglobina fetal
Doença hereditária
Mutação
Fetal hemoglobin
Hereditary persistence of fetal hemoglobin
HPFH
Transient expression
Hemoglobina fetal
Doença hereditária
Mutação
title_short The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
title_full The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
title_fullStr The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
title_full_unstemmed The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
title_sort The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
author Schreiber, R
author_facet Schreiber, R
Gonçalves, Marilda de Souza
Junqueira, M. L
Saad, Sara Terezinha Olalla
Krieger, J. E
Costa, Fernando Ferreira
author_role author
author2 Gonçalves, Marilda de Souza
Junqueira, M. L
Saad, Sara Terezinha Olalla
Krieger, J. E
Costa, Fernando Ferreira
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Schreiber, R
Gonçalves, Marilda de Souza
Junqueira, M. L
Saad, Sara Terezinha Olalla
Krieger, J. E
Costa, Fernando Ferreira
dc.subject.other.pt_BR.fl_str_mv Hemoglobina fetal
Doença hereditária
Mutação
topic Hemoglobina fetal
Doença hereditária
Mutação
Fetal hemoglobin
Hereditary persistence of fetal hemoglobin
HPFH
Transient expression
Hemoglobina fetal
Doença hereditária
Mutação
dc.subject.en.pt_BR.fl_str_mv Fetal hemoglobin
Hereditary persistence of fetal hemoglobin
HPFH
Transient expression
dc.subject.decs.pt_BR.fl_str_mv Hemoglobina fetal
Doença hereditária
Mutação
description Marilda de Souza Gonçalves “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
publishDate 2001
dc.date.issued.fl_str_mv 2001
dc.date.accessioned.fl_str_mv 2017-06-08T18:52:13Z
dc.date.available.fl_str_mv 2017-06-08T18:52:13Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
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dc.identifier.citation.fl_str_mv SCHREIBER, R. et al. The Ag-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro. Brazilian Journal of Medical and Biological Research, v. 34, p. 489-492, 2001.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/19353
dc.identifier.issn.pt_BR.fl_str_mv 0100-879X
identifier_str_mv SCHREIBER, R. et al. The Ag-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro. Brazilian Journal of Medical and Biological Research, v. 34, p. 489-492, 2001.
0100-879X
url https://www.arca.fiocruz.br/handle/icict/19353
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dc.publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
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