[Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene].
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).


CONCLUSIONS
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.
Yang
Chun-shui
CS
Department of Neurology, Nanshan Hospital, Shenzhen, Guangdong, PR China. yangchunshui2001@yahoo.com.cn
Liang
Xiu-ling
XL
Li
Jian-ying
JY
Yan
Zhen-wen
ZW
Huang
Fan
F
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D027682:Cation Transport Proteins / Q000235:genetics*; D045744:Cell Line, Tumor; D002648:Child; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008156:Luciferases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D055815:Young Adult
D027682:Cation Transport Proteins; D008156:Luciferases; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases