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目的 探讨肝豆状核变性 (Wilson’s disease,WD)的发病机理。方法 将活检获得的 WD患者肝标本体外分离、培养肝细胞 ,应用 Western印迹法对 WD患者肝细胞 WD蛋白进行检测 ,同时扩增其基因组 DNA并直接测序。结果 3例 WD患者中有 2例出现肝细胞 WD蛋白特异条带密度降低 ,DNA测序发现其中一例患者存在 ATP7B778位点 CGG→ CTG(Arg778L eu)杂合突变及 770位点 CTC→ CTG改变。结论 WD基因在 WD患者肝细胞的蛋白表达存在异常 ,可能与 ATP7B基因突变有关。
Objective To investigate the pathogenesis of Wilson’s disease (WD). Methods The liver samples of WD patients obtained by biopsy were isolated in vitro and the hepatocytes were cultured. Western blotting was used to detect the WD protein in WD patients. Meanwhile, the genomic DNA was amplified and sequenced directly. Results Two of the three WD patients showed a decrease in the density of specific bands of WD protein. DNA sequencing showed that there was a heterozygous mutation of CGG → CTG (Arg778L eu) at ATP7B778 and CTC → CTG at 770 in DNA sequencing. Conclusion There is abnormal expression of WD gene in liver cells of WD patients, which may be related to the mutation of ATP7B gene.