用RFLP和生化指标结合Bayes定理对Wilson病家系进行综合分析  

Screening sibs in Wilson'disease families by using RFLP analysisand Bayes theorem

作　　者：邹宇[1] 张咸宁[1] 陈秀珍[1] 李采娟[1] 李乃忠[1] 

机构地区：[1]上海医科大学医学遗传研究室,上海医科大学神经病学研究室

出　　处：《中国优生与遗传杂志》1994年第3期1-3,5,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金

摘　　要：Ｗｉｌｓｏｎ病，又称为肝豆状核变性，是一种常染色体隐性遗传病。该病主要由于铜积累而造成肝脏、基底神经节等器官的功能异常，早期发现并治疗能有效控制病情，否则可导致死亡。本文利用三个ＤＮＡ探针对两例ＷＤ家系进行ＲＦＬＰ分析，同时还检测了先证者同胞的ＥｓＤ分型和ＣＰ、血清铜和尿铜几项生化指标，并应用Ｂａｙｅｓ定理对他们的三种可能状态──症状前患者、杂合子和正常个体进行综合判别分析，结果显示家系Ａ和家系Ｂ中先证者的同胞均为ＷＤ致病基因携带者。Wilson's desease,also hepatolenticular degeneration,is an autosomal recessively ihherited disorder of copper metabolism.The metablic defect cause the accumulation of copper in the liver,basal ganglia and other organs resulting in tissue damage and death if untreated. Patients present with liver disease and/or an extrapyramidal neurological syndrome in the first or second decade of life. It is important but difficult to screen presymptomatic with three probes,At the same time,we identified two probands'sibs in these WD families from their states; normal,carrier or presymptomatic,With their ceroplasmin,serum copper, urinary copper and the polymorphism of esterase D by using Bayes theorem.

关 键 词：家系 WILSON病 先证者 生化指标 WD Bayes定理 治疗 RFLP分析 器官 肝脏 

分 类 号：R742.4[医药卫生—神经病学与精神病学] R446[医药卫生—临床医学]