Data/hora: 09/06/2024 18:14:18

Provedor de dados: | Brazilian Journal of Medical and Biological Research
País: | Brazil
Título: | The Agamma-195 (C-&gt;G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
Autores: | Schreiber,R.; Gonçalves,M.S.; Junqueira,M.L.; Saad,S.T.O.; Krieger,J.E.; Costa,F.F.
Data: | 2001-04-01
Ano: | 2001
Palavras-chave: | Fetal hemoglobin; Hereditary persistence of fetal hemoglobin; HPFH; Transient expression.
Resumo: | Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. Several point mutations have been associated with the increased gamma-globin gene promoter activity. We evaluated the -195 (C-&gt;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 gamma-globin gene containing the -195 (C-&gt;G) mutation. Furthermore, this is the first time that the -195 (C-&gt;G) mutation of the Agamma-globin gene has been evaluated by in vitro gene expression.
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000400008
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X2001000400008
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.34 n.4 2001
Fonte: | info:eu-repo/semantics/openAccess