Study on polymorphisms and mutations in the promoter region of WD gene
- VernacularTitle:肝豆状核变性基因启动子区的多态和突变研究
- Author:
Chunshui YANG
;
Xiuling LIANG
;
Zhenwen YAN
- Publication Type:Journal Article
- Keywords:
Wilson disease Gene Promoter Mutation
- From:
Chinese Journal of Practical Internal Medicine
2001;0(09):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen polymorphisms and mutations in the promoter region of WD gene.Methods DNA from peripheral blood was obtained from 71 subjects of 36 family (48 WD patients,23 patients first-degree relatives) and 20 healthy people from Feb.2001 to Feb.2004.DNA sequence of the genes was analyzed by PCR amplification and direct genomic sequencing.Results There were three polymorphisms at positions-190,-78,+260(transcription start site as +1) of the promoter region of WD gene.Normal controls,WD patients and patients’ first-degree relatives all showed the polymorphisms;three of 48 WD patients presented C→T base substitution mutations at the same position -183:two were homozygous mutation,while the other was heterozygous.Normal control subjects and patients' relatives didn’t show this kind of mutation.Conclusion It suggests that the mutation of the promoter region is one of WD pathogenesis.
