【摘要】 目的对贵州汉族人群在Identifiler体系中的15个短串连重复序列（STR）基因座进行遗传多态性调查。方法采用荧光标记STR-PCR复合扩增、毛细管电泳基因分型技术,对1 000名贵州汉族人群无关个体进行15个STR基因座的基因分型,计算其等位基因频率、杂合度（H）、匹配概率（PM）、个人识别力（DP）、非父排除率（PE）、多态信息总量（PIC）、父权指数（PI）等多态性参数,并进行统计学分析。结果在贵州汉族人群1 000名无关个体中共检出178个等位基因,其频率分布为0.000 5⁰.531 5。15个STR基因座的基因型分布进行χ²检验符合Hardy-Weinberg平衡定律（P>0.05）。杂合度为0.603 0⁰.880 0;个人识别力为0.786 1⁰.966 6,累积DP>0.999 999 999;匹配概率为0.033 4⁰.213 9,累积PM=1.198×10^-17;三联体非父排除率为0.294 5⁰.754 8,累积CPE=0.999 998 925;二联体非父排除率为0.195 9⁰.571 6,累积CPE=0.999 760 600;多态信息含量为0.545 1⁰.849 2,累积PIC=0.999 999 999;亲权指数为1.2 594⁴.1 667。结论贵州汉族人群检测的15个STR基因座具有高度多态性,是较理想的遗传标记,统计的等位基因频率等基础数据可为本地区的个人识别、三联体亲子鉴定及群体遗传学研究提供依据,但在二联体亲子鉴定中运用存在一定风险。更多还原

【Abstract】 Objective To investigate the genetic polymorphism of 15 STR loci with Identifiler kit in Han nationality in Guizhou province. Methods The technique of fluorescent dye labeling multiplex STR-PCR,capillary electrophoresis and genotyping techniques were adopted in genotyping 1 000 unrelated individuals collected from Han nationality in Guizhou. The allele frequency of 15 STR loci,the heterzygosity( H),the discrimination power( DP),the probability of matching( PM),the power of exclusion( PE),the polymorphism information content( PIC),and the paternity index( PI) were calculated. Results Among the Han population samples of 1000 unrelated individuals,the total of 178 alleles in 15 STR loci with their frequencies of 0. 000 5 ~ 0. 531 5 were detected. The genotypic distributions meet Hardy-Weinberge equilibrium by χ2 testing( P > 0. 05). Statistical result showed that the heterzygosity( H) were ranged from 0. 603 0 to 0. 880 0,the power of discrimination( DP) were0. 786 1 ~ 0. 966 6,the combined DP > 0. 999 999 999,the probability of matching( PM) were 0. 033 4 ~ 0. 2139,the combined PM were 1. 198 × 10-17,the power of exclusion in Trios( PE) were 0. 294 5 ~ 0. 754 8,the combined PE were 0. 999 998 925,the power of exclusion in Duos were 0. 195 9 ~ 0. 571 6,the combined PE were 0.999 760 600,the polymorphism information content( PIC) were 0. 5 451 ~ 0. 8 492,the combined PIC = 0. 999999 999,the paternity index( PI) were 1. 259 4 ~ 4. 166 7. Conclusion The 15 STR loci have higher polymorphism and are satisfactory genetic markers. The data on the allele frequencies of these 15 STR loci can be used in individual identification,parentage testing of trios and other population genetic researches for the Guizhou Han nationality,whereas a certain risk could be arisen in parentage testing of duos.更多还原