中国南方汉族人群20个常染色体STR基因座的多态性分析

目的 评估PowerPlex(R)21系统所含基因座的等位基因频率、法医学常用遗传学参数和系统效能.方法 对PowerPlex(R)21系统包含的20个常染色体STR基因座(D3S1358、D1S1656、D6S1043、D13S317、PentaE、D16S539、D18S51、D2S1338、CSF1PO、PentaD、TH01、vWA、D21S11、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433、FGA)进行基因分型.统计2367个南方汉族无关个体中上述20个基因座的等位基因频率和遗传学参数,并将本研究人群的等位基因频率与文献报道的其他人群数据进行比较.结果 该系统各基因座的个体识别率为0.7839～0.9852,非父排除率为0.2974～0.8099.除D5S818基因座外,其余基因座均符合哈-温平衡.该系统的累积非父排除率和累积个体识别率均超过0.999 999 999 999 999 999 999 999999 999.南方汉族人群与8个少数民族(广西彝族、广西回族、广西苗族、贵州侗族、贵州苗族、青海土家族、青海回族、云南彝族)相比,等位基因频率有显著性差异.中国南方汉族人群和日本、菲律宾、韩国、北意大利和阿根廷等人群相比,在8-20个STR基因座上存在显著性差异.南方汉族人群与上述5组国外人群以及及3组文献报道的国内人群(北京汉族、浙江汉族、福建汉族)在D1S1656基因座上的等位基因频率均有显著性差异.Neighbor-joining系统发生树显示所有亚洲人群聚类为一个分支,意大利北部和阿根廷人群聚集成另一个独立的分支,南方汉族人群和云南彝族人群遗传距离较近.结论 PowerPlex(R)21系统的20个STR基因座在中国南方汉族人群具有较高的遗传多态性,可满足亲子鉴定、个体识别以及人类学研究的需求.

Polymorphism analysis of 20 autosomal short-tandem repeat loci in southern Chinese Han population

Objective To evaluate the value of PowerPlex（R）21 System (Promega) and study the genetic polymorphism of its 20 short-tandem repeat (STR) loci in southern Chinese Han population.Methods We conducted genotyping experiments using PowerPlex(R)21 System on 20 autosomal STR loci (D3S1358,D1S1656,D6S1043,D13S317,Penta E,D16S539,D18S51,D2S1338,CSF1PO,Penta D,TH01,vWA,D21S11,D7S820,D5S818,TPOX,D8S1179,D12S391,D19S433 and FGA) in 2367 unre1ated Chinese Han individuals living in South China.The allele frequencies and parameters commonly used in forensic science were statistically analyzed in these individuals and compared with the reported data of other populations.Results The PowerPlex（R） 21 System had a power of discrimination (PD) ranging from 0.7839 to 0.9852 and a power of exclusion (PE) ranging from 0.2974 to 0.8099 for the 20 loci.No significant deviation from Hardy-Weinberg expectations was found for all the loci except for D5S818.This southern Chinese Han population had significant differences in the allele frequencies from 8 ethnic groups reported in China,and showed significant differences at 8 to 20 STR foci from 5 foreign populations.The allele frequency at the locus D1S1656 in this southern Chinese Han population differed significantly from those in the 5 foreign populations and from 3 reported Han populations in Beijing,Zhejiang Province and Fujian Province of China.The neighbor-joining phylogenetictree showed clustering of all the Asian populations in one branch,while the northern Italian and Argentina populations clustered in a separate branch.This southern Chinese Han population had the nearest affinity with the Yi ethnic population in Yunnan Province of China.Conclusion The 20 STR loci are highly polymorphic in this southern Chinese Han population,suggesting the value of this set of STR loci in forensic personal identification,paternity testing and anthropological study.