[Gene diagnosis of adult polycysitic kidney disease--using polymorphic microsatellite markers]

Gene diagnosis of adult polycystic kidney disease (APKD) is possible by genetic linkage analysis using linked restriction fragment length polymorphisms (RFLP) on both sides of the PKD1. This technique is laborious, expensive and sample- time- consuming. SM7 is a polymorphic microsatellite that tightly linked with the PKD1. We combined PCR with polyacrylamide gel electrophoresis and method of gel Ag+ staining to detect the allelus and genotype frequencies of the microsatellite amplificated in unrelated Chinese population. The study of 8 APKD families with SM7 demonstrated that the technique is quite simple, fast, sensitive and does not require the use of radioisotopes and ultraviolet. It could provide a powerful method for the presymptomatic and prenatal diagnosis of APKD.