The Agamma-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

R. Schreiber²  M.s. Gonçalves²  M.l. Junqueira¹  S.t.o. Saad²  J.e. Krieger¹  F.f. Costa² 

[1] ,Universidade Estadual de Campinas Hemocentro Campinas SP ,Brasil

关键词: fetal hemoglobin;    hereditary persistence of fetal hemoglobin;    HPFH;    transient expression;   

DOI  :  10.1590/S0100-879X2001000400008

来源: SciELO

【 摘 要 】

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->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->G) mutation. Furthermore, this is the first time that the -195 (C->G) mutation of the Agamma-globin gene has been evaluated by in vitro gene expression.

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