中国人Wilson病ATP7B基因Arg778Leu/Gln点突变与中医证型的相关性研究

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Msp Ⅰ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Arg77Leu/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20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。

Study on Relationship between Arg778Leu/Gln Gene Mutation Spot in ATP7B and TCM Syndrome Type in Chinese Patients with Wilson Disease

OBJECTIVE: To investigate the relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM Syndrome type in Chinese patients with Wilson disease (WD). METHODS: Exon 8 of ATP7B of 90 WD patients and 30 healthy controls were amplified by PCR and analysed by restriction enzyme Msp I, the TCM Syndrome type of the patients was differentiated at the same time. RESULTS: In the 90 WD patients, 34 with Arg778Leu/Gln of exon 8 were detected, among them 20 cases belonged to the TCM Syndrome type of endogenous Liver-Wind agitation. CONCLUSION: Onset age of WD patients with Arg778Leu/Gln mutation is later than that without this mutation. Arg778Leu/Gln mutation might be related to the TCM Syndrome type of endogenous Liver-Wind agitation.