Author | Schreiber, R | |
Author | Gonçalves, Marilda de Souza | |
Author | Junqueira, M. L | |
Author | Saad, Sara Terezinha Olalla | |
Author | Krieger, J. E | |
Author | Costa, Fernando Ferreira | |
Access date | 2017-06-08T18:52:13Z | |
Available date | 2017-06-08T18:52:13Z | |
Document date | 2001 | |
Citation | 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. | pt_BR |
ISSN | 0100-879X | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/19353 | |
Description | Marilda de Souza Gonçalves “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”. | pt_BR |
Sponsorship | FAPESP and CNPq. | pt_BR |
Language | eng | pt_BR |
Publisher | Associação Brasileira de Divulgação Científica | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Hemoglobina fetal | pt_BR |
Subject in Portuguese | Doença hereditária | pt_BR |
Subject in Portuguese | Mutação | pt_BR |
Title | The Ay-195 (C®G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro | pt_BR |
Type | Article | pt_BR |
Abstract | Hereditary 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 expression | pt_BR |
Affilliation | Universidade Estadual de Campinas. Hemocentro. Campinas, SP, Brasil | pt_BR |
Affilliation | Universidade Estadual de Campinas. Hemocentro. Campinas, SP, Brasil | pt_BR |
Affilliation | Universidade de São Paulo. Faculdade de Medicina. Instituto do Coração. Laboratório de Biologia Molecular. São Paulo, SP, Brasil | pt_BR |
Affilliation | Universidade Estadual de Campinas. Hemocentro. Campinas, SP, Brasil | pt_BR |
Affilliation | Universidade de São Paulo. Faculdade de Medicina. Instituto do Coração. Laboratório de Biologia Molecular. São Paulo, SP, Brasil | pt_BR |
Affilliation | Universidade Estadual de Campinas. Hemocentro. Campinas, SP, Brasil | pt_BR |
Subject | Fetal hemoglobin | pt_BR |
Subject | Hereditary persistence of fetal hemoglobin | pt_BR |
Subject | HPFH | pt_BR |
Subject | Transient expression | pt_BR |
DeCS | Hemoglobina fetal | pt_BR |
DeCS | Doença hereditária | pt_BR |
DeCS | Mutação | pt_BR |
xmlui.metadata.dc.subject.ods | 03 Saúde e Bem-Estar | |