中国北方20个Wilson病家系临床及RFLP结果分析  

Analysis or clinical result and RFLP in 20 Wilson's disease families from North China

作　　者：乐俊河[1] 谢久永[1] 方炳良[1] 黄尚志[1] 王玫[1] 施惠平[1] 汤晓芙[1] 高秀贤[1] 罗会元[1] 

机构地区：[1]中国医学科学院基础医学研究所医学遗传室,北京军区总医院,北京协和医院

出　　处：《中国优生与遗传杂志》1995年第2期5-8,共4页Chinese Journal of Birth Health & Heredity

基　　金：自然科学基金;国家教委留学回国人员启动基金;美国中华医学基金

摘　　要：Ｗｉｌｓｏｎ病是一种由铜蓄积引起肝脑损害的常染色体隐性遗传病。本文对中国北方２０个ＷＤ家系２６名患者的发病年龄、首发症状、Ｋ－Ｆ环及铜氧化酶吸光度进行了总结，并应用Ｄｌ３Ｓ３１／ＴａｑⅠ和Ｄ１３Ｓ３１／ＰｖｕⅡ对这２０个家系９３名家系成员进行了ＲＦＬＰ分析（其中１１个家系加用了Ｄ１３Ｓ２６／ＨｐｈⅠ和ＲＢ／ＸｂａⅠ），２３名先证者同胞中２０名可作出诊断（８７％），表明ＲＦＬＰ分析是该病有效的诊断方法。Wilson's disease(WD), an autosomal recessive disorder, is caused by copper accumulation resulted in subsequent damage to liver and brain. In this paper, the clinical data, such as, age of onset, first symptom, K-F rings and the activity of copper-containing amine oxidase, were essayed on 26 patients in 20 WD families from North China.Linkage analysis using the D13S31/Taq I and D13S31/Pvu Ⅱ polymorphic sites was carried out on 93 members in these families, in 11 families the polymorphisms of D13S26/Hph I and RB/Xba I sites were analyzed previously.The genetypes were determined by haplotype analysis on 20 of 23 (87%) sibs.The result showed that RFLP analysis may provide a useful diagnostic method for WD.

关 键 词：家系 WILSON病 临床 结果分析 先证者 脑损害 出诊 RFLP分析 隐性遗传病 中国北方 

分 类 号：R742.4[医药卫生—神经病学与精神病学] R596[医药卫生—临床医学]