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使用连续模型解释的DNA混合物在假设相关性和不假设相关性情况下似然比的比较。

A comparison of likelihood ratios with and without assuming relatedness for DNA mixtures interpreted using a continuous model.

作者信息

Kruijver Maarten, Bright Jo-Anne

机构信息

ESR, Auckland, New Zealand.

ESR, Auckland, New Zealand.

出版信息

Forensic Sci Int Genet. 2023 Jan;62:102800. doi: 10.1016/j.fsigen.2022.102800. Epub 2022 Oct 27.

DOI:10.1016/j.fsigen.2022.102800
PMID:36372011
Abstract

When evaluating support for the contribution of a person of interest (POI) to a mixed DNA sample, it is generally assumed that the mixture contributors are unrelated to the POI and to each other. In practice, there may be situations where this assumption is violated, for instance if two mixture contributors are siblings. The effect on the likelihood ratio of (in)correctly assuming relatedness between mixture contributors has previously been investigated using simulation studies based on simplified models ignoring peak heights. We revisit this problem using a simulation study that applies peak height models both in the simulation and mixture interpretation part of the study. Specifically, we sample sets of mixtures comprising both related and unrelated contributors and evaluate support for the contribution of the mixture donors as well as unrelated persons with and without incorporating an assumption of relatedness. The results show, consistent with earlier studies, that including a correct assumption of relatedness increases the capacity of the probabilistic genotyping system to distinguish between mixture donors and unrelated persons. Any effect of the relatedness is found to depend strongly on the mixture ratio. We further show that the results do not change materially when a sub-population correction is applied. Finally, we suggest and discuss a likelihood ratio approach that considers relatedness between mixture contributors using a prior probability.

摘要

在评估某个相关人员(POI)对混合DNA样本的贡献的支持度时,通常假定混合样本的贡献者与该相关人员以及彼此之间均无亲缘关系。在实际情况中,可能存在违反这一假设的情形,例如,如果两个混合样本贡献者是兄弟姐妹。先前已经通过基于忽略峰高的简化模型的模拟研究,探讨了(错误地)假定混合样本贡献者之间存在亲缘关系对似然比的影响。我们使用一项模拟研究重新审视这个问题,该研究在研究的模拟和混合样本解读部分均应用了峰高模型。具体而言,我们对包含有亲缘关系和无亲缘关系贡献者的混合样本集进行抽样,并在纳入和不纳入亲缘关系假设的情况下,评估对混合样本捐献者以及无关人员贡献的支持度。结果表明,与早期研究一致,纳入正确的亲缘关系假设可提高概率基因分型系统区分混合样本捐献者和无关人员的能力。发现亲缘关系的任何影响都强烈依赖于混合比例。我们进一步表明,应用亚群体校正时结果不会有实质性变化。最后,我们提出并讨论一种似然比方法,该方法使用先验概率来考虑混合样本贡献者之间的亲缘关系。

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