α珠蛋白基因3′HVR在成人型多囊肾病基因诊断中的应用  

Usage of 3' HVR in gene diagnosis of adult polycystic kidney disease

作　　者：陈国强[1] 曾瑞萍[2] 

机构地区：[1]珠江医院肿瘤科 [2]中山医科大学遗传教研室

出　　处：《第一军医大学学报》1992年第3期216-218,共3页Journal of First Military Medical University

摘　　要：本文采用Southern blot方法,利用3′HVR/PvuⅡ,3′HVR/Bg1 Ⅱ RFLPs对9个成年型多囊肾病家系74名成员进行连锁分析,发现3′HVR呈高度多态性,它的Pvu Ⅱ、Bg1 Ⅱ和PvuⅡ+Bg1 Ⅱ RFLPs限制性片段的杂合率分别为92％、84.7％和98.6％,3′HVR与致病基因之间的重组率为0.045,最大Lods值为9.71,并成功地对有症状期患者和7名症状前期患者进行了基因诊断。74 members from nine APKD families were analysed with Southern blot and 3'HVR/PvuⅡ, 3'HVR/Bg1Ⅱ RFLPs. The results showed that 3'HVR fragments are highly polymorphic. The heterozygote frequencies of PvuⅡ , Bgl Ⅱ and Pvu Ⅱ + Bgl Ⅱ fragments are 92%, 84.7% and 98.6% respectively. The maximum lod score for linkage between 3'HVR and APKD was 9.71 at a recombination = 0.045. We successfully applied 3'HVR probe to the gene diagnoses of symptomatic patients, as well as 7 patients in the presymptomatic stage.

关 键 词：成年型 多囊肾 基因诊断 

分 类 号：R692.11[医药卫生—泌尿科学]