目的　检测肝豆状核变性基因 18号外显子在中国人中的突变位点。方法　对中国人肝豆状核变性39个家系 45个患者的 18号外显子进行PCR SSCP筛选 ,对有异常者进行序列分析 (自动测序 )。结果　共发现有 16个泳动异常 ,且单链异常位置有两种不同形式。测序结果经与正常对照及与GENEBANK比较 ,证实均无突变存在。结论　肝豆状核变性 18号外显子在中国人存在单链构象多态 ,不是突变热区 ,与欧洲人明显不同 Objective To detect the mutation site of Wilson’s disease exon 18 in Chinese. Methods SSCP screening of exon 18 of 45 Chinese patients with Wilson’s disease in 39 pedigrees was carried out. Sequences analysis (automatic sequencing) of those with abnormalities were performed. Results A total of 16 motile abnormalities were found, and there were two different forms of single-stranded abnormalities. Sequencing results compared with the normal control and with GENEBANK, confirmed that no mutation exists. Conclusion Hepatolenticular degeneration exon 18 has a single-strand conformational polymorphism in Chinese, which is not a mutation hot zone, which is obviously different from that in Europe