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目的对肝豆状核变性(WD)基因编码产物WD蛋白进行检测,探讨WD的发病机制。方法应用Western-blot蛋白印迹技术对诊断为WD的患者进行WD蛋白的研究。结果发现患者WD蛋白在肝内表达缺失或者含量改变。结论 WD患者可能同时存在有WD基因exon8和 exon5的突变,直接检测WD基因产物为进一步研究WD的病理机制奠定了基础。“,”Objective To investigate the pathogenesis of Wilson disease (WD) by detecting its gene products encoded by WD gene (ATP7B). Methods Patients diagnosed as WD were analyzed by SDS-PAGE in conjunction with Western blot. Two antibodies were used, which are specially against the sixth copper binding domain (Anti-CuBD) and ATP binding domain (Anti-ABD) of WD protein. Results The WD proteins were not expressed in two patients when using anti-CuBD, and poorly expressed when using anti-ABD. Conclusions WD is highly heterogeneous in clinical manifestations and inheritance pattern. Two WD patients might simultaneously have exon 5 mutations and exon 8 mutations. The study of WD gene products would probe into the pathogenesis of WD.