云南汉族人群20个常染色体STR基因座遗传多态性

Genetic Polymorphism of 20 Autosomal STR Loci in Yunnan Han Popolation

目的研究云南汉族群体20个常染色体基因座的遗传多态性.方法采用Power PlexR21 System试剂盒,对1085例云南汉族无关个体20个常染色体基因座（D3S1358、D1S1656、D6S1043、D13S317、Penta E、D16S539、D18S51、D2S1338、CSF1PO、Penta D、TH01、v WA、D21S11、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433、FGA）进行复合扩增,用AB 3130自动遗传分析仪进行扩增产物的电泳分离,用Genemapper ID v3.2软件进行STR基因分型分析,用Modified-Powerstates软件进行法医学遗传学参数统计分析以及Hardy-Weinberg平衡检验.结果在1085例云南汉族人群中,除TH01和TPOX基因座,其余STR基因座的均具有高度遗传多态性,杂合度（H）分布在0.6130-0.8743之间,随机匹配率（PM）分布在0.0179-0.2030之间,个体识别力（DP）在0.7970-0.9821之间,非父排除率（PE）在0.3067-0.7432之间,父权指数（PI）在1.2919-3.9766之间,多态性息含量（PIC）在0.5598-0.8958之间.基因型分布均符合Hardy-Weinberg平衡定律.结论这20个常染色体基因座在云南汉族人群中具有较高的多态性和较好的个体识别能力,能满足法医学个体识别和亲权鉴定的需要.

Objective To study the genetic polymorphism of 20 autosomal short tandem repeats（STR） loci in Yunnan Han population. Methods The 20 STR loci（D3S1358, D1S1656, D6S1043, D13S317, Penta E,D16S539,D18S51,D2S1338,CSF1 PO,Penta D,TH01,v WA,D21S11, D7S820, D5S818, TPOX,D8S1179,D12S391,D19S433 and FGA） which were included in the Power PlexR21 System kit were genotyped in 1085 unrelated Han individuals living in Yunnan province using multiplex amplication. PCR products were separated and analyzed by the AB 3130 automatic genetic analyzer and Gene Mapper ID v3.2 software. Forensic parameters of each locus were calculated by Modified-Powerstates software. Results All the studied loci except for TH01 and TPOX were highly polymorphic. The observed heterozygosity（Ho） ranged from 0.6130 to 0.8743. Match probability（PM） ranged from 0.0179 to 0.2030. Power of discrimination（DP） ranged from 0.7970 to 0.9821.Probability of exclusion（PE） ranged from 0.3067 to 0.7432. Paternity index（PI） ranged from 1.2919 to 3.9766.Polymorphism information content（PIC） ranged from 0.5598 to 0.8958. No deviation of the Hardy-Weinberg equilibrium was observed. Conclusion The studied 20 STR loci were highly polymorphic in Yunnan Han population and could be used in forensic individual identification and paternity testing practice.