The polymorphism of two microsatellites closely linked to the locus for polycystic kidney disease 1 in Chinese population

OBJECTIVE: To evaluate the polymorphism of AC2.5 and SM7, two microsatellite markers closely linked to the locus for polycystic kidney disease 1 (PKD1), in the Han (Chinese majority) and the Zhuang(the largest minority in China) populations and make clear whether the allele frequencies of these markers exhibit significant differences between populations. METHODS: The two microsatellite markers were amplified by polymerase chain reaction(PCR), followed by 10% non-denatured polyacrylamide gel electrophoresis(PAGE) and DNA sequencing to analyze the PCR products. RESULTS: (1) Ten AC2.5 alleles and eleven SM7 alleles were observed in 104 Chinese Han people, and eight AC2.5 alleles and nine SM7 alleles were observed in 75 Chinese Zhuang people. (2) The expected heterozygosities of AC2. 5 and SM7 were 68.4% and 77.4% in the Han population and 67.1% and 57.5% in the Zhuang population respectively. The polymorphism information content(PIC) values of them were 0.68 and 0.77 in the Han population and 0.67 and 0.57 in the Zhuang population respectively. (3) Several allele frequencies of the two markers exhibited significant differences between populations(P 0.05). CONCLUSION: AC2.5 and SM7 are highly polymorphic and can be used in genetic diagnosis of both Chinese Han and Zhuang PKD1 families. The allele frequency distributions of them exhibit significant difference between populations.