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.
出处
《第一军医大学学报》
CSCD
1992年第3期216-218,共3页
Journal of First Military Medical University
关键词
成年型
多囊肾
基因诊断
3'HVR
adult polycystic kidney disease
gene diagnosis
