中国人Wilson病ATP7B基因Arg778LeuGln点突变与中医证.PDF

·280 · 2002 4 22 4 Wilson ATP7B Arg778Leu/Gln ■ 杨　斌 　胡纪源　洪铭范　杨任民 　　　:探讨中国人 Wilson 病(WD)ATP7B 基因Arg778Leu/Gln 点突变与中医证型的关系。 :应用PCR技 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。: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20 例。: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。 　Wilson 病　突变　基因型　表型　中医证型 Study on Relationship between Arg778Leu/Gln Gene Mutation Spot in ATP7B and TCM Syndrome Type in Chinese Patients with Wil son Disease YA G Bin, HU Ji-yuan, HO G Ming-fan, et al I nstit u te of N eurology , A nhui Col lege of TCM , Hef ei (230031 ) 　　Ob ective:To investigate the relationship between Arg778Leu/Gln genemutation spot inATP7B 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 MspⅠ, 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 ageof WD patients with Arg778Leu/Gln mutation is later than that without this mutation.Arg778Leu/Gln mutation might be related to the TCM Syndrometypeof endogenous Liver-Wind agitation 　　Key words 　Wilson disease, mutation, gene type, phenotype, TCM Syndrome type 　　Wilson (WD) 2　　PCR (MJ re- ,。ATP7B search, );(L7-35, ); ,ATP7B ATP7B (DY-Ⅲ, ); ,WD (DY-Ⅲ,);Complete Gel Documen- 、、。 tation Analysis system (GDS8000, );TaqD A ATP7B Arg778Leu/ (Promega, ); Msp Ⅰ Gln