University of Strathclyde, Centre for Forensic Science, Department of Pure and Applied Chemistry, Glasgow, UK.
Forensic Sci Int Genet. 2010 Jul;4(4):221-7. doi: 10.1016/j.fsigen.2009.09.008. Epub 2009 Oct 9.
In this paper we critically examine the causes of the underlying confusion that relates to the issue of low-template (LT) DNA profile interpretation. Firstly, there is much difficulty in attempting to distinguish between LT-DNA vs. conventional DNA because there is no discrete 'cut-off' point that can be reasonably defined or evaluated. LT-DNA is loosely characterised by drop-out (where alleles may be missing) and drop-in (where additional alleles may be present). We have previously described probabilistic methods that can be used to incorporate these phenomena using likelihood ratio (LR) principles. This is preferred to the random man not excluded (RMNE) method, because we cannot identify a coherent way forward within the restrictions provided by this framework. Most LT-DNA profiles are interpreted using a 'consensus' profile method, we called this the 'biological model', where only those alleles that are duplicated in consecutive tests are reported. We recognise that there is an increased need for probabilistic models to take precedence over the biological model. These models are required for all kinds of DNA profiles, not just those that are believed to be low-template. We also recognise that there is a need for education and training if the methods we recommend are to be widely introduced.
本文批判性地审视了导致低模板(LT)DNA 图谱解释问题产生混淆的原因。首先,尝试区分 LT-DNA 与常规 DNA 存在很大困难,因为没有明确的“截止”点可以合理定义或评估。LT-DNA 的特征是等位基因缺失(可能缺失)和等位基因插入(可能存在额外的等位基因)。我们之前描述了概率方法,可以使用似然比(LR)原理来包含这些现象。这优于随机 man not excluded (RMNE) 方法,因为我们无法在该框架提供的限制内找到一个连贯的前进方向。大多数 LT-DNA 图谱使用“共识”图谱方法进行解释,我们称之为“生物学模型”,其中仅报告在连续测试中重复的那些等位基因。我们认识到,需要优先采用概率模型而不是生物学模型。这些模型适用于所有类型的 DNA 图谱,而不仅仅是那些被认为是低模板的图谱。如果要广泛引入我们建议的方法,我们还认识到需要进行教育和培训。