论文部分内容阅读
目的评估Power Plex~?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Power Plex~?21系统包含的20个常染色体STR基因座(D3S1358、D1S1656、D6S1043、D13S317、Penta E、D16S539、D18S51、D2S1338、CSF1PO、Penta D、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 Power Plex?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。
Objective To assess allele frequencies at loci contained in the Power Plex® 21 system, genetic parameters commonly used in forensic science, and system efficacy. Methods The 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, FGA). The allele frequencies and genetic parameters of the above 20 loci in 2367 Han unrelated individuals in China were calculated. The allele frequencies in this study population were compared with those of other population reported in the literature. Results The individual recognition rate of each locus in this system was 0.7839 ~ 0.9852, and the non-parent exclusion rate was 0.2974 ~ 0.8099. Except for the D5S818 locus, the rest of the loci are Ha-temperature equilibrium. The cumulative non-parent exclusion rate and cumulative individual recognition rate of the system exceeded 0.999 999 999 999 999 999 999 999999 999 respectively. There were significant differences in allele frequencies between southern Han nationality and eight ethnic minorities (Guangxi Yi, Guangxi Hui, Guangxi Miao, Guizhou Dong, Guizhou Miao, Qinghai Tujia, Qinghai Hui, Yunnan Yi). Han populations in southern China and Japan, the Philippines, South Korea, northern Italy and Argentina, compared to 8-20 STR loci there is a significant difference. There were significant differences in allele frequency at the D1S1656 locus between Southern Han nationality and the above five groups of foreign people as well as three domestic populations reported by the three groups (Beijing Han nationality, Zhejiang Han nationality and Fujian Han nationality). The Neighbor-joining phylogenetic tree shows that all Asians clustered into one branch, while northern Italy and Argentina gathered into another independent branch. The southern Han population and the Yunnan Yi population had a relatively close genetic distance. Conclusion The 20 STR loci of the Power Plex 21 system have high genetic polymorphisms in southern Chinese Han population, which can meet the needs of paternity testing, individual identification and anthropological research.