三个STR基因座的遗传多态性研究

目的获得D2S1327、D11S1390、D11S2008基因座的群体遗传学数据，分析其基因频率在不同群体问的分布情况是否存在差异，并分析其在法医学中的应用价值。方法采用PCR、非变性聚丙烯酰胺凝胶电泳（PAGE）及银染技术分析中国成都地区汉族、泰国曼谷地区人群以及德国Maint地区人群中三个基因座的遗传多态性，获得三个基因座的群体遗传学数据，结果从300份分别采白成都地区汉族、泰国曼谷地区人群以及德国Maint地区人群的无血缘关系个体的静脉血，三个基因座分别发现9、6、8个等位基因，分别发现32、14、22种基因型；观测杂合度分别为79％～82％、63．0％～74．3％、72．0％～74．3％；个人识别机率分别为87．8％～92．6％、79．6％～82．5％、87．6％～89．0％．经统计学检验，三个基因座基因型的频率分布均符合Hardy-Weinberg平衡定律，而且三个基因座等位基因频率的分布在三个群体间差异无统计学意义。结论D2S1327、D11S1390、D11S2008基因座的个人识别能力高，在法医学个人识别和亲子鉴定应用中有较高价值。

Genetic Polymorphisms of Three Loci and Implication to Forensic Medicine

OBJECTIVE: To obtain population genetic data of short tandem repeat (STR) locus D2S1327, D1S1390, and D11S2008 and to investigate the disparity of allelic frequency distributions among populations from different regions. METHODS: Blood samples of 300 unrelated individuals from Chengdu (Han), Bangkok (Thai) and Maint (Germany) were taken and analyzed with single PCR, polyacrylamide gel electrophoresis and silver staining. RESULTS: In the three loci, 9, 6, and 8 alleles and 32,14, and 22 genotypes were found respectively. The observed heterozygosity of 79%-82%, 63.0%-74.3%, and 72.0%-74.3% and discrimination power of 87.8%-92.6%, 79.6%-82.5%, and 87.6%-89.0% were identified for the three loci respectively. The genotype distributions of the three loci in the three populations fitted well with Hardy-Weinberg equilibrium. There was no significant difference in allelic frequency distributions among the three populations. CONCLUSION: The methods described in this paper are easy to perform and have high sensitivities. The discrimination power and exclusion chances of these three loci are desirable for forensic analysis and application.