Department of Forensic Science, College of Criminal Justice, Sam Houston State University, Huntsville, TX 77340, USA.
Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland 1142 New Zealand.
Forensic Sci Int Genet. 2022 Jul;59:102691. doi: 10.1016/j.fsigen.2022.102691. Epub 2022 Mar 21.
The interpretation of mixtures containing related individuals can be difficult due to allele sharing between the contributors. Challenges include the assignment of the number of contributors (NoC) to the mixture with the under assignment of NoC resulting in false exclusions of true donors. Non-donating relatives of the true contributors to mixtures of close relatives can result in likelihood ratios supporting their adventitious inclusion within the mixture. We examine the effect of non-donor likelihood ratios on mixtures of first order relatives. Mixtures of full siblings and parent-child were created by mixing the DNA from known family members in vitro, or by in silico simulation. Mixtures were interpreted using the probabilistic genotyping software STRmix™ and likelihood ratios were assigned for the true donors and non-donors who were either further relatives of the true donors or unrelated to the true donors. The two donor balanced mixtures deconvoluted straightforwardly when analysed as NoC = 2 giving approximately the experimental design 1:1 ratio. When analysed as NoC = 3 a very large number of non-donor genotypes produced LRs close to 1 including many instances of adventitious support. The in vitro three donor balanced mixtures proved difficult to assign as NoC = 3 by a blind examination of the profile. It is likely that many of these would be misassigned as NoC = 2. The analysis of the in vitro and in silico mixtures assuming NoC = 3 with no use of a conditioning profile or with the use of a conditioning profile but without informed priors on the mixture proportions (Mx priors) was ineffective. If the profile can be assigned as NoC = 3 then assignment of the Mx priors is straightforward. This analysis gave no false exclusions. Adventitious support did happen for relatives with high allele sharing. Adventitious support was not observed for any unrelated non-donors. The analysis of the three-person mixtures as NoC = 2 produced many false exclusions and fewer instances of adventitious support. The three donor unbalanced mixtures could all be assigned as NoC= 3. Analysis without Mx priors produced an alternate genotype explanation.
由于供体之间存在等位基因共享,因此解释包含相关个体的混合物可能具有一定难度。挑战包括将供体数量(NoC)分配给混合物,而 NoC 的低估会导致对真实供体的错误排除。混合物中真正供体的非捐献亲属可能会导致支持他们偶然包含在混合物中的似然比。我们研究了非捐献者似然比对近亲混合物的影响。通过在体外混合已知家庭成员的 DNA 或通过计算机模拟创建全同胞和亲子混合物。使用概率基因分型软件 STRmix™ 解释混合物,并为真实供体和非供体分配似然比,这些非供体要么是真实供体的进一步亲属,要么与真实供体无关。当分析为 NoC = 2 时,两个供体平衡混合物直接解卷积,给出接近实验设计的 1:1 比例。当分析为 NoC = 3 时,大量非供体基因型产生接近 1 的 LR,包括许多偶然支持的实例。体外三供体平衡混合物难以通过盲法检查将 NoC = 3 进行分配。很可能其中许多会被错误地分配为 NoC = 2。在没有使用条件化谱或使用条件化谱但没有关于混合物比例的信息先验(Mx 先验)的情况下,分析假设 NoC = 3 的体外和计算机模拟混合物是无效的。如果可以将谱分配为 NoC = 3,则分配 Mx 先验很简单。这种分析没有产生错误的排除。对于具有高等位基因共享的亲属,确实发生了偶然支持。对于任何无关的非捐献者,都没有观察到偶然支持。将三人混合物分析为 NoC = 2 会产生许多错误排除和较少的偶然支持实例。所有三个供体不平衡混合物都可以分配为 NoC= 3。没有 Mx 先验的分析会产生替代基因型解释。