Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 566-568, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-279999
ABSTRACT
<p><b>OBJECTIVE</b>To find out the relationship between mutation of ATP7B gene promoter region and pathogenesis of Wilson disease(WD).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Base Sequence
/
Promoter Regions, Genetic
/
Adenosine Triphosphatases
/
Cation Transport Proteins
/
Cell Line, Tumor
/
Copper-Transporting ATPases
/
Genetics
/
Hepatolenticular Degeneration
/
Luciferases
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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