目的　研究报道Wilson病 (WD)基因 7种新突变和 5种新多态 ,结合前期在部分外显子发现并报道的突变和多态现象 ,进一步分析WD基因全长外显子的突变特征 ,以期对中国人WD基因的突变状况有一个完整的认识。方法　研究对象包括 6 0名无亲缘关系的正常对照和 84例分别来自6 5个家系的WD患者。抽取上述研究对象的外周静脉血 ,用盐析法或过柱法抽提基因组DNA。用聚合酶链反应方法分别扩增全部的 2 1个外显子顺序 ,以单链构象多态分析及DNA测序方法 ,检测上述研究对象的基因突变和多态。结果　共检测到 18种突变和 17种多态 ,包括 7种新突变和 5种新多态。其中Arg778Leu和Thr935Met为基因突变热点 ,突变频率分别高达 37 7%和 10 0 % ,其余突变的频率均低于 4 0 %。此次研究还发现曾作为突变形式加以报道的Ile1148Thr应考虑为一种多态现象。结论　我国WD基因突变是以少数几个热点突变和广泛存在的罕见突变为特征。 OBJECTIVE: To study the mutations and polymorphisms of seven WD mutations and five novel polymorphisms of Wilson’s disease (WD) gene, and analyze the mutations and polymorphisms found in some exons of pre-WD. In order to have a complete understanding of the Chinese WD gene mutation status. Methods The subjects included 60 unrelated normal controls and 84 patients with WD from 65 pediatric families. Peripheral venous blood was drawn from the above subjects, and genomic DNA was extracted by salting-out or post-column. All 21 exon sequences were amplified by polymerase chain reaction (PCR). Single-strand conformational polymorphism and DNA sequencing were used to detect the gene mutation and polymorphism in the above study subjects. Results A total of 18 mutations and 17 polymorphisms were detected, including 7 new mutations and 5 new polymorphisms. Among them, Arg778Leu and Thr935Met were hotspots of mutation, the frequencies of mutation were as high as 37.7% and 100% respectively, and the frequencies of other mutations were all lower than 40%. The study also found that Ile1148Thr, which had been reported as a mutated form, should be considered as a polymorphism. Conclusion Our country WD gene mutation is characterized by a few hot mutations and widespread mutations.