DNA多态性在肝豆状核变性症状前诊断中的应用  

A study on presymptomatic diagnosis of Wilson disease with DNA polymorphic analysis

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[2] 高秀贤[2] 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 [2]北京协和医院,100700

出　　处：《中华儿科杂志》1996年第1期8-10,共3页Chinese Journal of Pediatrics

基　　金：国家自然科学基金;国家教委留学回国人员启动基金;美国中华医学基金

摘　　要：为探寻肝豆状核变性早期确诊的方法，应用DNA多态性对中国北方20个WD家系中23名表型正常的先征者同胞进行了症状前诊断。结果：1人被确诊为症状前患者，8人为正常个体，7人为杂合子，4人可能是正常个体，也可能是杂合于，2人可能是症状前患者，也可能是杂合于，只有1人无法分析，临床诊断率为86．9％，为肝豆状核变性先征者同胞提供了可靠的症状前诊断方法。DNA polymorphic analysis Was performed in 23 cases of normal sibs of probans from 20wilson disease (WD) families in the north of China. The result showed that 1 out of 23 was presymp-tomatic patient, 8 were normal individuals, 7 were heterozygotes, 4 were either normal individuals orheterozygotes, 2 were either presymptomatic patients or heterozygotes and only one could not be anal-ysed. The rate of successful diagnosis was 86. 9%. It is concluded that this method provides a reliableapproach to presymptomatic diagnosis of WD.

关 键 词：肝豆状核变性 DNA 多态性 诊断 

分 类 号：R742.404[医药卫生—神经病学与精神病学]