Wolf Andreas, Caliebe Amke, Junge Olaf, Krawczak Michael
Institut für Medizinische Informatik und Statistik, Christian-Albrechts-Universität, Brunswiker Strasse 10, 24105 Kiel, Germany.
Forensic Sci Int. 2005 Sep 10;152(2-3):209-13. doi: 10.1016/j.forsciint.2004.07.021.
The mathematical concept previously introduced for the forensic interpretation of DNA mixtures using non-associated genetic markers has been adapted to the assessment of haplotypes. Such calculus is required, for example, when Y-chromosomal markers are used in forensics. In addition to outlining the general mathematical framework, we devise two approaches to its practical computational implementation, involving either the inclusion-exclusion principle of probability theory or a recursion in the number of unknown contributors invoked. The two approaches scale differently, depending upon the complexity of the case and the diversity of the markers used. The performance of Y-chromosomal microsatellites (Y-STRs) as a means of trace donor discrimination has been assessed by simulation, using the derived formulas. Based upon data from the Y-chromosomal Haplotype Reference Database (YHRD), the exclusion chance of a non-contributor is shown to vary between 95% in the case of two contributors, and 70% for five contributors. With only one additional contributor, half of all contributing suspects would yield a log-likelihood ratio in favour of donorship of 1.61 or higher, although the median drops to 0.66 with four additional contributors. It must be emphasised that these estimates of the discriminatory power of Y-STRs are likely to be conservative since the simulations involved only haplotypes known to occur in YHRD.
先前引入的用于使用非关联遗传标记对DNA混合物进行法医解释的数学概念已被应用于单倍型评估。例如,在法医鉴定中使用Y染色体标记时就需要这种计算方法。除了概述一般的数学框架外,我们还设计了两种实际计算实现方法,一种涉及概率论的包含-排除原理,另一种涉及对未知贡献者数量的递归调用。这两种方法的扩展方式不同,具体取决于案件的复杂性和所使用标记的多样性。通过模拟,使用推导公式评估了Y染色体微卫星(Y-STR)作为追踪供体鉴别的手段的性能。根据来自Y染色体单倍型参考数据库(YHRD)的数据,非贡献者的排除概率在有两名贡献者的情况下为95%,在有五名贡献者的情况下为70%。仅增加一名贡献者时,所有有贡献的嫌疑人中有一半会产生有利于供体身份的对数似然比为1.61或更高,不过增加四名贡献者时中位数降至0.66。必须强调的是,Y-STR鉴别力的这些估计可能较为保守,因为模拟仅涉及已知在YHRD中出现的单倍型。