Diagnosing Presymptomatical Wilson Disease Patients By Using Molecular Genetics Analysis / 中国医师杂志

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.