ABSTRACT
Objective To investigate the genetic polymorphisms and populational diversity of one SNP site on vitamine D receptor gene exon 2 in Northern China Han nationality, Uygur, Tibetan, and Kazark populations. Methods The DNA samples from 271 unrelated individuals were typed by using PCR-RFLP and DNA sequencing analysis. Results ACG was the commonest allele with frequencies ranging from 0.57 to 0.72. The frequencies of genotype ACG/ATG was beyond 0.5 in both Tibetan and Uygur. The frequencies of both genotypes ACG/ATG and ACG/ACG were 0.3976 in Han nationality. In Kazak population, the frequency of genotype ACG/ACG was 0.5769. Both DP and EPP of the SNP site were beyond 0.56 and 0.16 respectively in these four populations. The genotype distribution was accord with Hardy-Weinberg equilibrium. There was some difference of the frequency distribution between these four groups. Comclusion SNP site on vitamine D receptor gene exon 2 is one with high polymorphism and certain popu-lational diversity.