Department of Genetics, The Hebrew University of Jerusalem, Givat Ram, Jerusalem 91904, Israel.
Forensic Sci Int Genet. 2011 Nov;5(5):428-35. doi: 10.1016/j.fsigen.2010.09.002. Epub 2010 Oct 2.
The identification of a suspect in a complex DNA mixture typed with standard short tandem repeat (STR) kits has proved difficult. In the current study we present the theoretical framework of a method aimed to resolve this problem in forensic cases. The method suggests genotyping a specially designed panel of 1000-3000 single nucleotide polymorphisms (SNPs), each with a relatively low (<0.1) minor allele frequency (MAF). The rationale of this method is that any individual will carry a specific set of dozens of rare alleles and the complex DNA mixture will carry this particular set only if the one individual is represented in the DNA mixture. The efficiency of the method is evaluated by estimating the probability that a random man will not be excluded (RMNE) from the mixture. When this probability, P(RMNE), is low, one can conclude that the suspect's DNA is present in the DNA mixture. Essentially, a P(RMNE)<10(-9) is considered as proof, whereas a P(RMNE)<10(-6) is considered strong evidence. For completeness, we also analyzed the method using the likelihood ratio (LR) approach. We have analyzed the method for a variety of conditions and found that generally the method will provide highly significant results even for complex mixtures combining up to 10 individuals. The method performs well even when close relatives (one or two brothers) are present in the complex DNA mixture and when contributors or suspects come from different populations. We have also found that the method can accurately identify the number of contributors to the mixture, something that in some instances has significant forensic value on its own.
在使用标准短串联重复序列(STR)试剂盒进行复杂 DNA 混合物分型时,鉴定嫌疑人一直很困难。在当前的研究中,我们提出了一种旨在解决法医案例中这一问题的方法的理论框架。该方法建议对专门设计的 1000-3000 个单核苷酸多态性(SNP)面板进行基因分型,每个 SNP 的次要等位基因频率(MAF)相对较低(<0.1)。该方法的基本原理是,任何个体都会携带特定的数十个稀有等位基因,如果 DNA 混合物中存在一个个体,则 DNA 混合物中只会携带这一特定的等位基因集合。通过估计随机男性(RMNE)被排除在混合物之外的概率(RMNE)来评估该方法的效率。当该概率(P(RMNE))较低时,可以得出结论,嫌疑人的 DNA 存在于 DNA 混合物中。本质上,认为 P(RMNE)<10(-9)是证明,而 P(RMNE)<10(-6)被认为是有力证据。为了完整性,我们还使用似然比(LR)方法分析了该方法。我们已经针对各种情况分析了该方法,发现即使是混合了多达 10 个人的复杂混合物,该方法通常也能提供非常显著的结果。即使在复杂 DNA 混合物中存在近亲(一个或两个兄弟)或供体或嫌疑人来自不同人群时,该方法也能很好地发挥作用。我们还发现,该方法可以准确识别混合物的供体数量,在某些情况下,这本身就具有重要的法医学价值。