title: The Agamma-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 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.
authors: Hemocentro, Universidade Estadual de Campinas, Caixa Postal 6198, 13083-970 Campinas, SP, Brazil.
authors: R
authors: R
authors: Schreiber
authors: M S
authors: MS
authors: Gonçalves
authors: M L
authors: ML
authors: Junqueira
authors: S T
authors: ST
authors: Saad
authors: J E
authors: JE
authors: Krieger
authors: F F
authors: FF
authors: Costa
mesh_terms: D000328:Adult; D017931:DNA Primers; D005319:Fetal Hemoglobin / Q000235:genetics*; D015870:Gene Expression; D017930:Genes, Reporter; D005914:Globins / Q000235:genetics* / Q000378:metabolism; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D008156:Luciferases / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014162:Transfection; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D017931:DNA Primers; D005914:Globins; D005319:Fetal Hemoglobin; D008156:Luciferases; D001616:beta-Galactosidase