Study on the Diagnosis Technology of Wilson's Disease Gene Mutation with Double PCR-SSCP
- VernacularTitle:应用双重PCR-SSCP检测Wilson病患者的基因突变
- Author:
Nan CHENG
;
Mingfan HONG
;
Jiyuan HU
;
Xun WANG
;
Yongzhu HAN
;
Renmin YANG
- Publication Type:Journal Article
- Keywords:
Wilson disease;
ATP7B gene;
Gene mutation;
Double PCR-SSCP;
Gene diagnosis
- From:
Journal of Medical Research
2006;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To establish a fast and effective gene diagnosis method for Wilson's disease(WD) patients by double PCR-SSCP technology.Methods We amplificated exon8 and exon12 of ATP7B gene by double PCR from genomic DNA of 140 unrelated WD patients and 30 normal controls,then used SSCP technology to screen them.At last we identificated these patients' mutation features by direct sequencing.Results No abnormality shift was found in 30 controls.In 140 patients,we found 7 types of abnormal mobility shifts in 66 cases(47.14%).In subsequent direct sequencing,mutation rate of Arg778Leu/Gln was 37.14%(52/140),and Thr935Met was 12.86%(18/140).Conclusion Double PCR-SSCP diagnosis technology is a effective method which can improve diagnosis rate for Wilson disease.
