The Agamma-195 (C->G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
Braz. j. med. biol. res
; 34(4): 489-92, Apr. 2001. tab
Article
in English
| LILACS
| ID: lil-282614
Responsible library:
BR1.1
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
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
In Vitro Techniques
/
Fetal Hemoglobin
/
Globins
/
Genes, Reporter
/
Hemoglobinopathies
/
Mutation
Type of study:
Risk factors
Limits:
Adult
/
Humans
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2001
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Estadual de Campinas/BR
/
Universidade de São Paulo/BR