Center for Human Identification, Graduate School of Biomedical Sciences, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Fort Worth, TX 76107, USA.
Center for Human Identification, Graduate School of Biomedical Sciences, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Fort Worth, TX 76107, USA.
Forensic Sci Int Genet. 2019 Jan;38:121-129. doi: 10.1016/j.fsigen.2018.10.013. Epub 2018 Oct 29.
Current approaches to mixture deconvolution of complex biological samples at times do not have the capability to resolve component contributors in DNA evidence. Additional short tandem repeat (STR) loci were sought that may improve the forensic genetic analysis of mixtures. This study presents exploratory data of a multiplex comprised of 73 highly polymorphic STRs (referred herein as the 73Plex) that were selected because of their high diversity due to sequence variation. These STRs (or a subset of them) may be considered as candidates that may augment current core markers capabilities for DNA mixture deconvolution. Population genetics analyses were performed for each locus using DNA samples from 451 individuals comprising three U.S. populations. Sequence-based heterozygosities ranged from 72% to 98%, where only two loci (D10A97 and D6A7) fell below 80%. Mixture deconvolution capabilities for two-person mixtures were assessed based on complete allele resolution per locus (i.e., four alleles observed) of pairwise mixtures using in silico methods. A subset of 20 highly informative loci (referred herein as the 20Plex) from the 73Plex was compared to the 20 CODIS core loci on all population samples with full DNA profiles for both panels (i.e., no locus dropout; n = 443). Based on proportion of loci displaying four alleles, the 20Plex outperformed the CODIS core loci with increases of 82.6% and 89.3% using length-based and sequence-based alleles, respectively. A combination of 17 STR from the 20Plex and 3 CODIS loci gave the highest capacity for resolving allelic components per locus. These data illustrate the increased value of utilizing sequenced-based alleles of additional STR loci. Furthermore, there are a number of candidate STR loci that could notably augment the current core STR loci and enhance mixture interpretation capabilities.
当前,在对复杂生物样本进行混合物解析时,有些方法可能无法解析 DNA 证据中的成分贡献者。因此,我们寻求额外的短串联重复序列(STR)基因座,以改善混合物的法医遗传学分析。本研究介绍了一个由 73 个高度多态性 STR 组成的多重扩增试剂盒(下文简称 73Plex)的探索性数据,这些 STR 因序列变异而具有高度多样性,因此被选中。这些 STR(或其中的一个子集)可以被视为可能增强当前核心标记物用于 DNA 混合物解析能力的候选物。使用来自三个美国人群的 451 个人的 DNA 样本,对每个基因座进行了群体遗传学分析。基于序列的杂合度范围从 72%到 98%,只有两个基因座(D10A97 和 D6A7)低于 80%。基于每个基因座的完全等位基因分辨率(即观察到四个等位基因),使用计算机模拟方法评估了两个人的混合物的混合物解析能力。从 73Plex 中选择了 20 个高度信息丰富的基因座(下文简称 20Plex)的一个子集,并与所有人群样本中的 20 个 CODIS 核心基因座进行了比较,这些样本都具有两个面板的完整 DNA 图谱(即没有基因座缺失;n=443)。基于显示四个等位基因的基因座比例,20Plex 在基于长度和基于序列的等位基因上,分别比 CODIS 核心基因座提高了 82.6%和 89.3%。使用 20Plex 中的 17 个 STR 和 3 个 CODIS 基因座的组合,每个基因座的等位基因成分解析能力最高。这些数据表明,利用额外 STR 基因座的基于序列的等位基因具有更高的价值。此外,还有许多候选 STR 基因座可以显著增强当前的核心 STR 基因座,并增强混合物解释能力。