Yang Bin, Hu Ji-yuan, Hong Ming-fan
Institute of Neurology, Anhui College of TCM, Hefei 230031.
Zhongguo Zhong Xi Yi Jie He Za Zhi. 2002 Apr;22(4):280-2.
To investigate the relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM Syndrome type in Chinese patients with Wilson disease (WD).
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.
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.
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.
探讨中国肝豆状核变性（WD）患者ATP7B基因第778位密码子精氨酸（Arg）突变为亮氨酸（Leu）/谷氨酰胺（Gln）与中医证型的关系。
采用聚合酶链反应（PCR）扩增90例WD患者及30例健康对照者ATP7B基因第8外显子，并用限制性内切酶MspⅠ进行分析，同时对患者进行中医辨证分型。
90例WD患者中，检测到34例存在ATP7B基因第8外显子Arg778Leu/Gln突变，其中20例属于中医内风扰动证型。
存在Arg778Leu/Gln突变的WD患者发病年龄晚于无此突变者。Arg778Leu/Gln突变可能与中医内风扰动证型有关。
