Objective: To investigate the polymorphisms of four microsatellites, D4S1534, D4S1563, D4S423 and D4S414, which are tightly linked to polycystic kidney disease 2 (PKD2) gene, and hence to provide a basis for studying the heterogeneity of adult polycystic kidney disease (APKD).
Methods: An analysis on the DNA of some unrelated Chinese people was performed using polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining.
Results: In Chinese Hans, there are 11 alleles of D4S1534, and their sizes are 142-162 bp 14 alleles of D4S1563, 205-235 bp 17 alleles of D4S423, 103-135 bp; and 15 alleles of D4S414, 236-264 bp. The polymorphism information contents of the four microsatellites are 0.872, 0.844, 0.921 and 0.871 respectively.
Conclusion: In the Chinese Han people studied above, the four microsatellite markers that have many alleles are highly polymorphic genetic markers and may serve as the data of population genetics, suggesting that all four microsatellites could be used in studies on heterogeneity of APKD, linkage analysis of APKD and forensic personal identification.