目的 :探讨中国人Wilson病 (WD)ATP7B基因Arg778Leu/Gln点突变与中医证型的关系。方法 :应用PCR技术分别扩增 90例WD患者和 30名健康人ATP7B基因的第 8外显子 ,其PCR产物行限制性内切酶MspⅠ酶切分析。 90例WD患者进行中医辨证分型。结果 :90例WD患者有 34例Arg778Leu/Gln点突变 ;WD患者中医辨证分型属肝风内动者Arg778Leu/Gln点突变占 2 0例。 结论 :Arg778Leu/Gln点突变组患者的发病年龄迟于未见该点突变组的患者 ,Arg778Leu/Gln点突变可能与中医肝风内动证型相关 Objective: To investigate the relationship between Arg778Leu / Gln point mutations of ATP7B gene and TCM syndromes in Chinese patients with Wilson disease (WD). Methods: The exon 8 of ATP7B gene was amplified by PCR in 90 patients with WD and 30 healthy individuals. The PCR product was digested with restriction endonuclease Msp Ⅰ. 90 patients with WD syndrome differentiation of traditional Chinese medicine. Results: There were 34 cases of Arg778Leu / Gln point mutations in 90 cases of WD patients. There were 20 cases of Arg778Leu / Gln point mutations in WD patients. Conclusion: The onset of Arg778Leu / Gln point mutation group is later than that of the mutant group. The point mutation of Arg778Leu / Gln may be related to the dynamic liver syndrome of TCM