基因扫描微卫星DNA进行常染色体显性遗传性多囊肾病囊肿前诊断

目的；利用与多囊肾病PKD1基因紧密连锁的微卫星DNA，通过家系连锁分析，进行了常染色体显性遗传性多囊肾病（ADPKD）的囊肿前诊断，为临床分子诊断奠定基础。方法：采用PCR－基因扫描的方法，对4个ADPKD家系共39人进行了连锁分析。结果：通过连锁分析，发现4个家系中1名16岁个体为PKD1突变携带者，处于囊肿发生前期。结论：基因扫描微卫星DNA是一种快速，准确的基因分型方法，可用于ADPKD的囊肿前诊断。

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease by genescanning microsatellite DNA

Objective: To make a presymptomatic diagnosis of autosomal dominant polycystic kidney disease (ADPKD) by genescanning microsatellite DNA. Methods: Thirty nine individuals of 4 families with ADPKD were recruited by consent. Three polymorphic markers linked to polycystic kidney disease 1 gene ( PKD1 ) were amplified by polymerase chain reaction and genescanning microsatellite DNA was performed, then a molecular diagnosis of the mutation carriers was made by genetic linkage analysis. Results: One individual was diagnosed as PKD1 mutation carrier who was in the pre stage of cyst. Conclusion: Our data suggest genescanning microsatellite DNA may be a rapid and accurate genotyping method, and it can be used as a tool for presymptomatic diagnosis of ADPKD.