[Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(5): 566-8, 2005 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-16215951
ABSTRACT
OBJECTIVE:
To find out the relationship between mutation of ATP7B gene promoter region and pathogenesis of Wilson disease(WD).METHODS:
Two of 48 WD patients presented C-->T base substitution mutations at the position -183. DNA sequences of the promoter region from normal and mutant samples were separated. The fragments containing the promoter region were cloned upstream of the luciferase. Luciferase activity was analyzed.RESULTS:
The luciferase activity of reporter gene containing normal sequence of ATP7B gene promoter region did not show significant difference as compared with that of reporter gene containing mutant promoter(n=3, P > 0.05).CONCLUSION:
No influence of C-->T base substitution mutations on the activity of promoter was observed in study. The results suggest that WD pathogenesis relates little to the mutations of the promoter region in Chinese.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Regiões Promotoras Genéticas
/
Adenosina Trifosfatases
/
Proteínas de Transporte de Cátions
/
Degeneração Hepatolenticular
/
Luciferases
/
Mutação
Limite:
Adolescent
/
Adult
/
Child
/
Female
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Humans
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Male
/
Middle aged
Idioma:
Zh
Ano de publicação:
2005
Tipo de documento:
Article