成都汉族D2S2944和D1S2134的遗传多态性和种属特异性研究

Polymorphisms and Species Specificity of D2S2944 and D1S2134 Loci in Chinese Han Population in Chengdu

目的 获得中国成都地区汉族群体中短串连重复序列 (STR) D2 S2 94 4与 D1S2 134两个位点的多态性分布资料和评价它们在法医学上的应用。方法 用 PCR、聚丙烯酰胺凝胶电泳、银染技术 ,对 12 0个成都汉族无血缘关系的个体进行分析 ,并选择猴、猪、狗、牛、羊、鸡、鸭、鱼、猫、兔、豚鼠、家鼠、鳝鱼、蛙 14种常见的动物作为种属特异性评价的对照样本 ,对这两个位点进行种属特异性评价。结果 发现 D2 S2 94 4有 8个等位基因 ,2 2种基因型 ,观察杂合度 (h)为 0 .82 4 ;个体识别率 (DP)为 0 .92 5 ;多态信息含量 (PIC)为 0 .78;非父排除率 (EP)为 0 .6 4 4 ;D1S2 134有 10个等位基因 ,2 6种基因型 ;h为 0 .76 9;DP值为 0 .92 0 ;PIC为 0 .79,EP值为 0 .5 4 3;基因型分布经过相关软件分析 ,符合 Hardy- Weinberg平衡定律。通过种属特异性的评价发现 D2 S2 94 4与 D1S2 134具有较好的人类种属特异性。结论 D1S2 134和 D2 S2 94 4位点多态性好 ,非父排除率和个人识别率高 ,种属特异性好 ,可作为法医学亲子鉴定和个人识别的候选标记 ,且方法简便、可靠 ,重复性好。

Objective To obtain the data of polymorphism distribution of the two STR loci D2S2944,D1S2134 in Chinese Han population in Chengdu and evaluate their usefulness in the field of forensic science. Methods PCR,polyacrylamide gel electrophoresis (PAGE) and silver staining were used to analyze 120 unrelated individuals of Chinese Han ethnic group in Chengdu. Fourteen different animals: monkey, pig, dog, bull, goat, chicken, duck, fish, cat, rabbit, Guinea pig, mouse, eel and frog were selected as controls in this study for evaluating the species specificity of the two STR loci. Results Eight alleles and twenty-two genotypes were found in D2S2944. The observed heterozygosity (h), discrimination power (DP), polymorphism information content (PIC), chance of paternity exclusion power(EP) were 0.824, 0.925, 0.78, 0.644 respectively. Ten alleles and twenty-six genotypes were observed in D1S2134. The h, DP, PIC and EP were 0.769, 0.920, 0.79, 0.543 respectively. The genotype distributions of the two loci were analyzed by some related software and no deviation from the Hardy-Weinberg equilibrium was observed. Evaluated by way of using different animals as controls, the two STR loci of human beings were found to have good specificity. Conclusion These data indicate that D1S2134 and D2S2944 are of good polymorphism, high EP and DP, and can be applied as the candidate genetic marks to forensic parentage testing and identification. The methods to analyze them are simple, dependable and repeatable.