Powerplex~ 16^(TM) System在中国人群中OL等位基因的研究

Development of OL Allele of Powerplex~ 16^(TM) System in China

【目的】分析Powerplex16TM System中各基因座的OL等位基因,探讨OL等位基因在中国人群中的分型及意义。【方法】用Powerplex16TM System试剂盒中15STR基因座检测23980个中国群体样本,通过STR分型数据对体系中各基因座的OL等位基因进行统计分析,找出频率较高的OL等位基因测序。【结果】在Powerplex16TM System中的15个基因座有11个基因座发现OL等位基因,以PentaE、PentaD和D7S820基因座中发现最多,分别有11、9和7个。D7S820的等位基因9.1、9.2、10.1;PentaE中的等位基因18.4,19.4,26;PentaD中的等位基因6;D21S11的等位基因30.3的频率均大于1‰。【结论】大样本基因频率调查能更好的发现STR基因座中的OL等位基因,OL等位基因正确分型对法医学中的个体识别和亲权鉴定有重要意义。

[Objective] The study is to analyze the types and frequencies of off-ladder （OL） allele and discuss the typing of OL allele and its significance in Chinese population. [Methods] 23 980 samples from China had been tested using Powerplex 16^TM System.The types of OL alleles was confirmed through statistic analysis of the OL allele from the STRs database and the sequences analyses of the OL alleles with higher allele frequencies in Powerplex 16^TM System. [Results] OL alleles were found out in eleven loci. 11, 9 and 7 kinds of OL alleles were found in PentaE, PentaD, and D7S820, respectively. Allele frequencies of 18.4, 19.4, 26 in PentaE, 6 in PentaD, 30.3 in D21Sll were more 1.0‰. [Conclusion] Allele frequencies research with a considerable amount of individuals enable OL allele better detected. The discovery and typing of OL allele is significant for the daily works in forensic biology.