Zhang Xiufeng, Liu Linlin, Xie Runfang, Wang Guiyi, Shi Yuan, Gu Tao, Hu Liping, Nie Shengjie
School of Forensic Medicine, Kunming Medical University, Kunming, Yunnan Province, People's Republic of China.
Center for Disease Prevention and Control of Kunming, Kunming, Yunnan Province, People's Republic of China.
Int J Legal Med. 2018 Jul;132(4):1083-1085. doi: 10.1007/s00414-017-1675-6. Epub 2017 Sep 8.
The genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 kit were evaluated from 2068 unrelated, healthy individuals from the Chinese Han population of Yunnan Province in southwest China. All of the loci reached Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. The genetic relationships among the Yunnan Han and other Chinese populations were also estimated. The combined discrimination power and probability of excluding paternity of the 20 STR loci were 0.99999999999999999999999126 and 0.999999975, respectively. In addition, mutation rates from 4363 parentage cases (2215 trios and 2148 duos) were investigated in this study. A total of 164 mutations were observed in 6578 meioses from the 20 loci. The highest mutation rate was observed in D12S391 (0.30%), and the lowest mutation rates were observed in D13S317 (0.03%) and TPOX (0.03%). The average mutation rate for the 20 loci was estimated to be 1.246 × 10 per meiosis. The mutations were primarily single-step and paternal mutations.
对来自中国西南部云南省汉族人群的2068名无亲缘关系的健康个体，评估了PowerPlex® 21试剂盒中包含的20个常染色体短串联重复序列（STR）基因座的遗传多态性。所有基因座均达到哈迪-温伯格平衡。对这些基因座进行检测以确定等位基因频率和法医学统计参数。还估计了云南汉族与其他中国人群之间的遗传关系。20个STR基因座的联合鉴别力和排除父权的概率分别为0.99999999999999999999999126和0.999999975。此外，本研究调查了4363例亲子鉴定案例（2215个三联体和2148个二联体）的突变率。在20个基因座的6578次减数分裂中总共观察到164个突变。在D12S391中观察到最高突变率（0.30%），在D13S317（0.03%）和TPOX（0.03%）中观察到最低突变率。20个基因座的平均突变率估计为每减数分裂1.246×10 。这些突变主要是单步突变和父系突变。
