青岛地区汉族群体短串联重复序列基因座D1S549、D3S1754和D12S375的遗传多态性

目的　了解 D1S5 4 9、D3S175 4和 D12 S375基因座在青岛地区汉族群体中基因型分布及等位基因频率等遗传多态性数据 ,初步探讨其应用价值。方法　收集 110名青岛地区汉族无血缘关系个体的静脉血 ,ACD抗凝 ,采用 Chelex法提取 DNA,应用聚合酶链反应技术扩增上述 3个基因座的短串联重复序列 ,聚丙烯酰胺凝胶垂直电泳 ,银染显色分型。结果　检出青岛地区汉族群体 D1S5 4 9、D3S175 4和 D12 S375这 3个基因座分别为 8、8和 5个等位基因 ,2 2、19和 14个基因型 ,获得青岛地区汉族人群的基因频率 ,3个基因型分布均符合 Hardy- Weinberg平衡。各基因座的期望杂合度分别为 0 .7988、0 .70 87和 0 .75 ,个人识别机率分别为 0 .914 3、0 .8382和 0 .886 1。与成都地区的基因频率相比较 ,D1S5 4 9差异有显著性 ,D3S175 4和D12 S375差异无显著性。结论　获得青岛地区汉族人群 3个基因座的基因频率等遗传多态性数据 ,为人类群体遗传学研究提供了相关的资料 ,这 3个基因座在青岛地区汉族群体中有较高的非父排除率和个人识别机率 ,在亲子鉴定、个体识别和遗传学研究中有较高的应用价值。

Genetic polymorphism of short tandem repeat loci D1S549,D3S1754 and D12S375 in Qingdao Han population

Objective To know the genotype and allele frequency distribution of D1S549, D3S1754 and D12S375 in Chinese Han population in the Qingdao area and to study the three short tandem repeat(STR) loci for genetic application. Methods ACD-blood specimens were collected from the unrelated individuals in Qingdao. The DNA samples were extracted with the use of Chelex method and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by polyacrylamide gel electrophoresis and were visualized by silver staining. Results Eight alleles were found at D1S549 locus, eight alleles at D3S1754 locus and five alleles at D12S375 locus, and 22, 19 and 14 genotypes were identified respectively. No deviation from Hardy-Weinberg equilibrium was observed in the three loci. The heteozygosities expected of them were 0.7988,0.7087 and 0.75 respectively. The exclusion probability was calculated as 0.6592 for D1S549, and 0.5605 for D3S1754, and 0.5864 for D12S375. The discriminating power of the three loci were 0.9143, 0.8382 and 0.8861. Comparison of the allelic frequencies in Qingdao area with those in Hans of Chengdu area by chi-square test showed a difference statistically significant at D1S549 locus but no difference at D3S1754 and D12S375 loci. Conclusion This study reveals the structure of the three loci and the obtained data are beneficial to understanding the population genetics in Chinese Han population. All of the three loci have higher chance of exclusion and higher discriminating power, and they will be useful markers for individual identification, paternity test and genetics purposes.