肝豆状核变性患者ATP7B基因突变分析及中医分型的相关性研究  

Study of the relationship between ATP7B gene mutation and the types of Chinese traditional medicine in WD.

作　　者：余元勋 鲍远程[2] 蒋怀周[2] 吴鹏[2] 汪鸿浩[2] 

机构地区：[1]安徽高等医专省遗传中心,安徽合肥230061 [2]安徽中医学院附院神经内科

出　　处：《中国优生与遗传杂志》2008年第1期12-14,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的用PCR-酶切和DNA直接双向测序法分析中国汉人ATP7B基因exon8,12突变特点及与WD中医分型的相关性。方法分子生物学方法及中医辨证分型方法。结果在102例WD患者中ATP7B基因exon8突变率27.5%,ex-on12突变率14.7%。中医辨证可将WD分为6型,各型在临床上有一定特点。结论exon8,12突变是WD患者的ATP7B基因最常见的突变,中医各型均与此突变密切相关;研究中还可发现一些国内罕见报道的点突变。Objective： To study the relationship between ATP7B exon8,12 mutation and Chinese traditiolnal medicine typing in WD.Methods： RE maping and PCR-RFLP and DNA seguencing,also using Chinese medicine typing method.Results： In 102 WD patieuts we found that the mutation rates for exon8,12 were 27.5%,14.7%.Chinese tradition medicine could devide WD to 6 types,each had its special points.Conclution：ATP7B gene exon8,12 were the mutation hot points and that was related with Chinese traditeional medicine typing.

关 键 词：肝豆状核变性 ATP7B基因 中医辨证分型 

分 类 号：R277.7[医药卫生—中医学]