Bao Y, Sheng X, Zhang J S, Li M, Li Y N, Xu Q N, Li C T, Chen L Q
School of Basic Medicine, Inner Mongolia Medical University, Hohhot 010030, China.
Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China.
Fa Yi Xue Za Zhi. 2018 Apr;34(2):120-125. doi: 10.3969/j.issn.1004-5619.2018.02.003. Epub 2018 Apr 25.
To investigate the genetic polymorphism of 21 autosomal STR loci and locus of SiFaSTR™ 23plex DNA ID system in Han population of eastern China and to evaluate its application value in forensic science.
Typing test of 2 000 unrelated individuals was performed using SiFaSTR™ 23plex DNA ID system. The population genetic parameters of STR loci were statistically analysed. A total of 3 198 parentage confirmed cases were detected with that system and the mutation conditions were observed in 21 autosomal STR loci.
All the 21 autosomal STR loci showed no significant departure from Hardy-Weinberg equilibrium （>0.05）. The Ho ranged from 0.617 5 to 0.927 0. The DP ranged from 0.796 4 to 0.986 9, as well as the PIC distributed from 0.561 1 to 0.912 3. The CDP was 0.999 999 999 999 999. The CPE was 0.999 997 431 701 961, while CPE was 0.999 999 999 654 865. Five alleles were detected in locus, with the allele frequency from 0.004 0 to 0.729 0, and GD was 0.418 9. Except and , seventy-six mutation events were observed at the rest nineteen autosomal STR loci. Among them, seventy-five （98.68%） were one step mutation, and only one （1.32%） was three steps mutation. The mutation rate ranged from 0.246 5×10⁻³ to 2.711 4×10⁻³, and the averaged mutation rate was 0.892 1×10⁻³ （95% CI： 0.70×10⁻³-1.10×10⁻³）. In 33 trio mutation cases, the proportion of the paternal mutation and the maternal mutation was 2.09:1.
The involved STRs are highly polymorphic in Eastern Han population with acceptable mutation rates by the SiFaSTR™ 23plex DNA ID system, which is suitable for paternity testing and individual identification.
研究中国东部汉族人群21个常染色体STR基因座及SiFaSTR™ 23plex DNA ID系统一个基因座的遗传多态性，评估其在法医学中的应用价值。
采用SiFaSTR™ 23plex DNA ID系统对2000名无关个体进行分型检测。对STR基因座的群体遗传参数进行统计分析。用该系统检测3198例亲权认定案例，观察21个常染色体STR基因座的突变情况。
21个常染色体STR基因座均未显著偏离Hardy-Weinberg平衡（>0.05）。杂合度（Ho）范围为0.617 5至0.927 0。鉴别力（DP）范围为0.796 4至0.986 9，多态信息含量（PIC）分布于0.561 1至0.912 3。累计鉴别力（CDP）为0.999 999 999 999 999。累计父权排除率（CPE）为0.999 997 431 701 961，累计母权排除率（CPE）为0.999 999 999 654 865。在一个基因座中检测到5个等位基因，等位基因频率为0.004 0至0.729 0，基因多样性（GD）为0.418 9。除两个基因座外，在其余19个常染色体STR基因座观察到76次突变事件。其中，75次（98.68%）为一步突变，仅1次（1.32%）为三步突变。突变率范围为0.246 5×10⁻³至2.711 4×10⁻³，平均突变率为0.892 1×10⁻³（95%可信区间：0.70×10⁻³ - 1.10×10⁻³）。在33例三联体突变案例中，父系突变与母系突变的比例为2.09:1。
SiFaSTR™ 23plex DNA ID系统所涉及的STR在东部汉族人群中具有高度多态性，突变率可接受，适用于亲子鉴定和个体识别。
