插入/缺失(InDel)多态性,短串联重复序列(STR)和单核苷酸多态性(SNP)的组合特征,在法医实践和人口遗传学领域具有相当大的潜力。然而,大多数基于非亚洲人设计的商业InDel试剂盒限制了在东亚(EAS)人群中的广泛法医应用。最近,基于全基因组EAS种群数据,设计了一种新型的基于6-染料直接和多重PCR-CE的分型系统,可以扩增60个分子遗传标记,由57个常染色体InDels(A-InDels)组成,2Y染色体InDels(Y-InDels),和Amelogenin在单个PCR反应中,并通过毛细管电泳检测,同时。在本研究中,通过新颖的分型系统产生了来自海南Li组的279个无关个体的DNA图谱。此外,我们收集了两个A-InDel集,以评估新系统在1,000个基因组计划(1KG)人群和海南李组中的法医性能。对于通用A-InDel集(UAIS,包含44A-InDels)的累积辨别力(CPD)从1-1.03×10-14到1-1.27×10-18,累积排除力(CPE)从0.993634到0.999908在1KG人群中。对于基于东亚的A-InDel集(EAIS,包含57A-InDels)的CPD范围从1-1.32×10-23到1-9.42×10-24,CPE范围从0.999965到0.999997。在海南李集团,平均杂合子(He)为0.4666(0.2366-0.5448),多态性信息含量(PIC)从0.2116到0.3750(平均PIC:0.3563±0.0291)。总的来说,57A-InDels的CPD和CPE分别为1-1.32×10-23和0.999965。因此,新型基于6-染料的直接和多重PCR-CE分型系统可以被认为是人类识别和洲际种群分化的可靠和强大的工具,并为1KG种群和海南黎族的亲属关系分析提供了更多信息。
Insertion/deletion (InDel) polymorphisms, combined desirable characteristics of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs), are considerable potential in the fields of forensic practices and population genetics. However, most commercial InDel kits designed based on non-Asians limited extensive forensic applications in East Asian (EAS) populations. Recently, a novel 6-dye direct and multiplex PCR-CE-based typing system was designed on the basis of genome-wide EAS population data, which could amplify 60 molecular genetic markers, consisting of 57 autosomal InDels (A-InDels), 2 Y-chromosomal InDels (Y-InDels), and Amelogenin in a single PCR reaction and detect by capillary electrophoresis, simultaneously. In the present study, the DNA profiles of 279 unrelated individuals from the Hainan Li group were generated by the novel typing system. In addition, we collected two A-InDel sets to evaluate the forensic performances of the novel system in the 1,000 Genomes Project (1KG) populations and Hainan Li group. For the Universal A-InDel set (UAIS, containing 44 A-InDels) the cumulative power of discrimination (CPD) ranged from 1-1.03 × 10-14 to 1-1.27 × 10-18, and the cumulative power of exclusion (CPE) varied from 0.993634 to 0.999908 in the 1KG populations. For the East Asia-based A-InDel set (EAIS, containing 57 A-InDels) the CPD spanned from 1-1.32 × 10-23 to 1-9.42 × 10-24, and the CPE ranged from 0.999965 to 0.999997. In the Hainan Li group, the average heterozygote (He) was 0.4666 (0.2366-0.5448), and the polymorphism information content (PIC) spanned from 0.2116 to 0.3750 (mean PIC: 0.3563 ± 0.0291). In total, the CPD and CPE of 57 A-InDels were 1-1.32 × 10-23 and 0.999965, respectively. Consequently, the novel 6-dye direct and multiplex PCR-CE-based typing system could be considered as the reliable and robust tool for human identification and intercontinental population differentiation, and supplied additional information for kinship analysis in the 1KG populations and Hainan Li group.