Diagnosing Presymptomatical Wilson Disease Patients By Using Molecular Genetics Analysis
- VernacularTitle:应用分子遗传学方法进行Wilson病的症状前诊断
- Author:
Ping ZHANG
;
Xiaoliu SHI
;
Qihe LING
- Publication Type:Journal Article
- Keywords:
Wilson Disease;
WND;
Presymptomatical Diagnosis;
Gene Diagnosis
- From:
Journal of Chinese Physician
2001;0(09):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To establish the molecular genetic assay for presymptometical diagnosis of Wilson disease(WD). Methods Chromosome haplotype of WD was constructed using three genetic markers.Disease-causing mutations of Wilson disease gene(WND) were examined among the WD probands and their sib by PCR-SSCP and DNA sequencing analysis in WD pedigrees, to expound whether the disease causing mutations of WD patients gene was simila to that of their probands.Results Two presymptomatical WD patients were diagnosed correctly in ten WD pedigrees, including one newborn girl. One carrier ,who has a lower serum ceruloplasmin(sCP) level,was discovered. Conclusions Presymptomatical WD diagnosis can be made by haplotype analysis and mutation examination.So that, WD patients can be properly treated in their early stage.
