中国海南黎族9个STR基因座的多态性调查

Polymorphisms of 9 short tandem repeat loci in Chinese subjects of Li nationality in Hainan Province

目的获得D18S1364、D12S391、D13S325、D6S1043、D2S1772、D11S2368、D22-GATA198B05、D8S1132、D7S30489个STR基因座在中国海南黎族和汉族群体中的基因型及等位基因频率数据,初步探讨其在遗传学研究及法医学中的应用价值和意义。方法随机抽取154例海南地区黎族无关个体,112例海南本地汉族无关个体,125例近期移民海南的汉族无关个体的静脉血,应用五色荧光标记引物复合扩增技术,计算中国海南黎族和海南汉族9个STR基因座的基因频率,统计分析各基因座的杂合度(Hobs)、多态信息总量(PIC)、个体识别机率(Dp)及累积个体识别率、累积非父排除率。分析上述9个STR基因座的遗传多态性,获得9个基因座的群体遗传学数据。结果9个基因座在该群体的基因型频率分布,均符合Hardy-Weinberg平衡定律。各基因座的期望杂合度(Hobs),多态信息总量(PIC)、个体识别机率(Dp)及累积个体识别率(CDP)、累积非父排除率(CCE),均无显著差异。结论D18S1364、D12S391、D13S325、D6S1043、D2S1772、D11S2368、D22-GATA198B05、D8S1132、D7S3048基因座在中国海南黎族,汉族群体中具有较高的个人识别机率,但无人群之间的差异,在法医学应用和群体遗传学研究中有较高的价值。

Objective To obtain the data of the genotypes and allele frequencies of 9 short tandem repeat （STR） foci （D18S1364, D12S391, D13S325, D6S1043, D2S1772, D11S2368, D22-GATA198B05, D8S1132, and D7S3048） in Chinese subjects of Li and Han nationalities in Hainan Province. Methods A total of 154 randomly selected unrelated subjects of Li nationality and 112 unrelated local Han subjects from Hainan Province, along with 125 Han subjects recent immigrated to Hainan were enrolled in this investigation. Venous blood samples were obtained from the subjects to determine the allele frequencies at the 9 STR loci using multiplex primer extension assay. Statistical analysis was performed to determine the observed heterozygosities （Hobs）, polymorphism information content （PIC）, individual identification probability （Dp）, accumulated power of discrimination, and cumulative rate of exclusion. The genetic polymorphisms of the 9 STR loci was analyzed to acquire the population genetics data. Results The genotype and frequency distributions of the 9 STR loci were consistent with Hardy-Weinberg equilibrium. The Hobs, PIC, Dp, cumulative rate of individual identification （CDP）, and cumulative chance of exclusion （CCE） showed no significant difference between the 9 foci. Conclusion D 18 S 1364, D 12S391, D13S325, D6S1043, D2S1772, D11S2368, D22-GATA198B05, D8S1132, and D7S3048 STR loci in Chinese Li and Han population in Hainan Province show a high probability of personal identification without obvious difference between the populations, suggesting their value in forensic science and population genetics.