成人型多囊肾病的遗传研究  

A Genetic Study of Adult Polycystic Kidney Disease

作　　者：茅一萍[1] 鲁晓瑄[1] 张军[1] 高翼之[1] 王世浚[1] 曾建新[1] 吴惠珍[1] 陈筠[1] 林贞[1] 

机构地区：[1]南京铁道医学院,福建省福清市医院

出　　处：《Acta Genetica Sinica》1994年第6期424-430,共7页

基　　金：江苏省计划生育委员会和铁道部科技司资助

摘　　要：３′ＨＶＲ是成人型多囊肾病基因诊断中最常用的探针。我们分析了５１个无亲缘关系健康学生和３个成人型多囊肾病家系的３′ＨＶＲ－ＲｖｕＩＩＲＦＬＰ，所得多态信息用计算机软件ＬＩＮＫ－ＡＧＥ和ＨＯＭＯＧ进行连锁分析和同质性检验。其中１个家系致病基因位点与３′ＨＶＲ不连锁，因而判定为ｎｏｎＰＫＤ１。剩下的两个家系中１个有明显的重组，但还不能判定为ｎｏｎＰＫＤ１，另１个与３′ＨＶＲ连锁，属于ＰＫＤ１。成人型多囊肾病的遗传异质性使它的基因诊断面临挑战，也影响了致病基因邻近的多态标志作为诊断工具的价值。The 3'HVR has been considered as the most useful probe in making the linkage analysis of adult polycystic kidney disease(APKD). We examined three APKD families using this probe. Their polymorphism information was then computed for linkage study using LINKAGE pakage and computer programme HOMOG for homogeneity test. One family was difined as non PKD1, because the disease locus was failed to show linkage to the 3'HVR marker. Of the other two families, one can still not be identified as non PKD1, but had distinguishable meiotic recombinations,another was in favour of linkage to 3'HVR and therefore judged to be PKD1. The presence of genetic heterogeneity could significantly reduce the value of linked probe analysis as a tool for gene diagnosis of APKD.Received June 24, 1993. This project Supported by State Family Planning Commissim o fJiangsu and Department of Science and Technology, Ministry of Railway

关 键 词：成人型 多囊肾 遗传病 遗传 

分 类 号：R596.1[医药卫生—内科学]