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目的 了解新疆哈萨克族人群D1 6S5 39,D7S82 0 ,D1 3S31 7三个STR位点的遗传多态性 ,建立该民族群体遗传学数据库。方法 运用复合PCR扩增 ,6 %变性聚丙烯酰胺凝胶电泳结合银染技术对 1 0 2位无关个体及 8个家系 42人的哈萨克族人群进行调查 ,并与其他种族或人群进行比较。结果 三个位点分别检测出 8、7、8个等位片段 ,多态性分布符合Hardy Weinberg平衡定律。期望杂合度为 0 .9439、0 .935 6、0 .930 4。三个位点的累积PIC =0 .990 5、DP =0 .9998、PE =0 .95 72。此外 ,在与其他四个人群比较中发现除与北京汉族在D7S82 0位点上无统计学意义 (P >0 .0 5 ) ,其余均可见显著性差异 (P <0 .0 5 )。同时 ,在家系调查中无一突变发现且均按孟德尔遗传规律传递。结论 三个STR位点的联合分析在法医学应用及群体遗传学中具有较高的价值。
Objective To understand the genetic polymorphisms of three STR loci in D1 6S5 39, D7S82 0 and D1 3S31 7 in Xinjiang Kazakh population and establish the population genetic database. Methods A total of 102 unrelated individuals and 42 Kazak people of 8 families were investigated by multiplex PCR amplification and 6% denaturing polyacrylamide gel electrophoresis combined with silver staining, and compared with other races or groups. Results Eight, seven and eight alleles were detected in the three loci. The distribution of polymorphisms was in accordance with Hardy Weinberg equilibrium law. The expected heterozygosity is 0 .9439,0 .935 6,0 .930 4. The three sites have a cumulative PIC = 0.905, DP = 0.9998, PE = 0.9572. In addition, in comparison with the other four groups, there was no significant difference (P> 0.05) between Beijing Han population at D7S880 locus and the other four groups (P <0.05). At the same time, no mutations were found in the pedigree survey and were all transmitted according to Mendelian laws. Conclusion The joint analysis of three STR loci has high value in forensic application and population genetics.