肝豆状核变性基因表达产物的初步研究  

A study of gene products encoded by Wilson disease gene

作　　者：梁秀龄[1] 侯国庆[2] 陈嵘[1] 徐评议[1] 黄帆[1] 王莹[1] 闫振文[1] 欧翠华[1] 

机构地区：[1]中山医科大学附属第一医院神经科,广州510080 [2]广州市第一人民医院脑内科

出　　处：《中华肝脏病杂志》2001年第2期86-88,共3页Chinese Journal of Hepatology

基　　金：卫生部临床学科重大项目!(37091);广东省自然科学基金!(960128);中山医科大学"211工程"重点建设项目资助

摘　　要：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ｅｘｏｎｓ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 antiCuBD, 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.

关 键 词：肝豆状核变性 蛋白 基因 印迹法 

分 类 号：R742.4[医药卫生—神经病学与精神病学]