应用RFLP位点进行Wilson病家系连锁分析  

A LINKAGE ANALYSIS OF WILSON'S DISEASE FAMILIES WITH RELP LOCUS

作　　者：乐俊河[1,2] 罗会元 谢久永[1,2] 方炳良 黄尚志[1,2] 

机构地区：[1]北京军区总医院 [2]中国医学科学院基础医学研究所

出　　处：《解放军医学杂志》1996年第5期370-371,共2页Medical Journal of Chinese People's Liberation Army

摘　　要：Ｗｉｌｓｏｎ病又称肝豆状核变性，是一种铜转运缺陷的常染色体隐性遗传病。应用ＲＦＬＰ位点对中国北方２０个Ｗｉｌｓｏｎ病家系进行了研究，连锁分析结果表明，２３名先证者同胞中，１人确诊为症状前患者，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子，２人可能是杂合子也可能是症状前患者，只有１人无法确定，为该病的先证者同胞提供了一个症状前诊断的有效方法。Wilson's disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper transport.RFLP locus were investigated in 20 Wilson′s disease families from North China. Linkage analysis was made in 23 sibs of the probands, results showed that one was presymptomatic patient, eight were normal indiveduals, or seven were heterozygotes, two were either presymptomatic patients or heteroaygotes,only one could not be determine. It may provide an effective presymptomatic diagnastic method for sibs of Wilson′s diseas probands.

关 键 词：肝豆状核变性 连锁分析 RFLP 

分 类 号：R742.402[医药卫生—神经病学与精神病学]