目的：寻找中国人肝豆状核变性病（ＷＤ）基因突变的形式及频率。方法：应用ＰＣＲＳＳＣＰ法对４５名ＷＤ患者进行基因ｅｘｏｎ５、８、１４、１８筛选，对确定异常者进行ＤＮＡ序列分析。结果：在４５名患者ＤＮＡ样本的ＰＣＲ扩增产物中未发现ｅｘｏｎ１８泳动异常，而３名患者显示ｅｘｏｎ１４多态性泳动异常，但这种泳动也可见于正常标本中。４例患者显示ｅｘｏｎ５单链构象多态性，序列分析表明为Ｔ插入突变，其突变频率为８８９％；２例存在ｅｘｏｎ８泳动异常，序列分析表明该外显子同时存在７７０ｃｏｄｏｎＣ２２５０→Ｇ同义突变和Ｇ２２７３→ＴＡｒｇ７７８→Ｌｅｕ错义突变，其突变频率为４４４％。结论：不同功能区域的ｅｘｏｎ５及ｅｘｏｎ８外显子突变可能是中国人ＷＤ发病的原因 Aims: To search for the form and frequency of mutations in the Chinese people with Wilson’s disease (WD). Methods: Forty-five patients with WD were screened for exon 5, 8, 14 and 18 using PCR-SSCP, and DNA sequence analysis was performed on those with abnormalities. RESULTS: No exon 18 migratory abnormalities were found in the PCR products of DNA samples of 45 patients, while 3 patients showed abnormal motility of exon 14 polymorphisms. However, this motility was also observed in normal specimens. Four patients showed exon5 single-strand conformation polymorphism. The sequence analysis showed that the mutation was T mutation, the mutation frequency was 889%. Exon8 motility abnormalities were found in two cases. Sequence analysis showed that the exon 5 coexisted with 770codonC2250 → G Sense mutation and G2273 → TArg778 → Leu missense mutation, the mutation frequency was 444%. Conclusion: Exon5 and exon8 mutations in different functional regions may be the cause of WD in Chinese