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

Abstract

Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of γ-globin genes persists into adult life. Several point mutations have been associated with the increased γ-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 over-expression of the γ-globin gene containing the -195 (C→G) mutation. Furthermore, this is the first time that the -195 (C→G) mutation of the Aγ-globin gene has been evaluated by in vitro gene expression.