title: [Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene].
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).
  
  
  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.
authors.affiliation: Department of Neurology, Nanshan Hospital, Shenzhen, Guangdong, PR China. yangchunshui2001@yahoo.com.cn
authors.forename: Chun-shui
authors.initials: CS
authors.lastname: Yang
authors.forename: Xiu-ling
authors.initials: XL
authors.lastname: Liang
authors.forename: Jian-ying
authors.initials: JY
authors.lastname: Li
authors.forename: Zhen-wen
authors.initials: ZW
authors.lastname: Yan
authors.forename: Fan
authors.initials: F
authors.lastname: Huang
mesh_terms: 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
chemical_list: D027682:Cation Transport Proteins; D008156:Luciferases; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases