D16S539、D7S820和D13S317位点在新疆哈萨克族中的遗传多态性

目的 了解新疆哈萨克族人群D16S539、D7S820和D13S317 3个STR位点的遗传多态性。方法 应用多重PCR扩增，6％变性聚丙烯酰胺凝胶电泳结合银染技术对102名无关个体及8个家系42人的哈萨克族人群进行调查，并与其他人群进行了比较。结果 3个位点分别检测出8、7、8个等位片段，多态性分布符合Hardy-Wdinberg平衡定律，期望杂合度为：0.9439、0.9356、0.9304，累积多态信息量为0.9905、个体识别为0.9998、非父排除率为0.9572，与其他人群比较差异有显著性（P＜0.05），在家系调查中无一突变发现，均按孟德尔遗传规律传递。结论 3个STR位点的综合检验在法医学应用及群体遗传学中显示了较高的价值。

Genetic polymorphism of D16S539, D7S820 and D13S317 loci in the Kazak ethnic population

Objective To analyze the genetic polymorphism of D16S539, D7S820 and D13S317 in Chinese Kazak ethnic population from Xinjiang. Methods One hundred and two unrelated individuals and a sample of families ( n =42) were investigated by multiplex amplification, 6% denaturing PAGE and silver staining. And, the obtained allele frequencies were compared with those of other populations. Results Eight, seven, eight alleles were observed at the 3 STR loci respectively and the genotypes distributions were in accordance with Hardy-Weinberg equilibrium. The expected heterozygosities for these loci were 0.9439, 0.9356 and 0.9304; the calculated polymorphism formation content (PIC) was 0.9905; the discrimination power (DP), 0.9998; the paternity exclusion (PE), 0.9572. In addition, significant difference was found in comparison with other populations, and in the sample of families ( n =42) no new mutations could be found. Conclusion The multiplex examination of 3 STR loci can be used in forensic identification and population genetics research.