Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194974
Type: Artigo de periódico
Title: The Agamma-195 (c-->g) Mutation In Hereditary Persistence Of Fetal Hemoglobin Is Not Associated With Activation Of A Reporter Gene In Vitro.
Author: Schreiber, R
Gonçalves, M S
Junqueira, M L
Saad, S T
Krieger, J E
Costa, F F
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.
Subject: Adult
Dna Primers
Fetal Hemoglobin
Gene Expression
Genes, Reporter
Globins
Hemoglobinopathies
Humans
Luciferases
Mutation
Point Mutation
Polymerase Chain Reaction
Transfection
Beta-galactosidase
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/11285460
Date Issue: 2001
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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