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Simulated approach to estimate the number and combination of known/unknown contributors in mixed DNA samples using 15 short tandem repeat loci

机译:使用15个短串联重复基因座估算混合DNA样品中已知/未知贡献子的数量和组合的模拟方法

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摘要

The calculation of likelihood ratios (LRs) for DNA mixture analysis is necessary to establish an appropriate hypothesis based on the estimated number of contributors and known contributor genotypes. In this paper, we recommend a relevant analytical method from the 15 short tandem repeat typing system (the Identifiler multiplex), which is used as a standard in Japanese forensic practice and incorporates a flowchart that facilitates hypothesis formulation. We postulate that: (1) all detected alleles need to be above the analytical threshold (e.g., 150 relative fluorescence unit (RFU)); (2) alleles of all known contributors should be detected in the mixture profile; (3) there should be no contribution from close relatives. Furthermore, we deduce that mixtures of four or more persons should not be interpreted by Identifiler as the LR values of 100, 000 simulated cases have a lower expectation of exceeding our temporal LR threshold (10, 000) which strongly supports the prosecution hypothesis. We validated the method using various computer-based simulations. The estimated number of contributors is most likely equal to the actual number if all alleles detected in the mixture can be assigned to those from the known contributors. By contrast, if an unknown contributor(s) needs to be designated, LRs should be calculated from both two-person and three-person contributions. We also consider some cases in which the unknown contributor(s) is genetically related to the known contributor(s).
机译:DNA混合物分析的似然比(LRs)计算对于基于估计的贡献者数量和已知贡献者基因型建立适当的假设是必要的。在本文中,我们推荐了15种短串联重复键入系统(Identifiler多重输入)的相关分析方法,该方法在日本法医实践中用作标准,并结合了有助于进行假设制定的流程图。我们假设:(1)所有检测到的等位基因都必须高于分析阈值(例如150个相对荧光单位(RFU)); (2)应在混合物概况中检测所有已知贡献者的等位基因; (3)近亲不应有任何贡献。此外,我们推断,Identifiler不应将四人或更多人的混合物解释为LR值100、000的模拟案例的期望值低于我们的暂时LR阈值(10,000),这强烈支持了起诉假说。我们使用了各种基于计算机的仿真方法验证了该方法。如果可以将混合物中检测到的所有等位基因分配给来自已知贡献者的等位基因,则贡献者的估计数量很可能等于实际数量。相反,如果需要指定一个未知的贡献者,则应该从两人和三人贡献中计算出LR。我们还考虑了某些情况,其中未知贡献者与已知贡献者在遗传上相关。

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