中国4个群体VDR基因2号外显子的SNP基因座遗传多态性

目的 调查中国北方汉族、维吾尔族、藏族和哈萨克族群体维生素D受体基因2号外显子SNP基因座的遗传多态性和群体差别。方法 应用PCR-RFLPs和DNA序列分析技术对271例个体的DNA样品进行分型。结果等位基因ACG的频率最高,分布在0.57～0.72之间。藏族与维吾尔族基因型ACG/ATG的频率超过0.5,汉族基因型ACG/ATG与ACG/ACG的频率均为0.3976;哈萨克族基因型ACG/ACG的频率达到0.5769。DP值与EPP值在4个群体中均超过0.56和0.16。基因型分布符合Hardy-Weinberg平衡,并在4个群体间有一定程度差异。结论 维生素D受体基因2号外显子SNP基因座具有较高的多态性,并具有一定的群体差别。

Genetic polymorphisms of one SNP site on VDR gene exon 2 in four ethnic groups in China

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.