University College London Genetics Institute, University College London, London WC1E 6BT, United Kingdom.
Proc Natl Acad Sci U S A. 2013 Jul 23;110(30):12241-6. doi: 10.1073/pnas.1219739110. Epub 2013 Jul 1.
Enhancements in sensitivity now allow DNA profiles to be obtained from only tens of picograms of DNA, corresponding to a few cells, even for samples subject to degradation from environmental exposure. However, low-template DNA (LTDNA) profiles are subject to stochastic effects, such as "dropout" and "dropin" of alleles, and highly variable stutter peak heights. Although the sensitivity of the newly developed methods is highly appealing to crime investigators, courts are concerned about the reliability of the underlying science. High-profile cases relying on LTDNA evidence have collapsed amid controversy, including the case of Hoey in the United Kingdom and the case of Knox and Sollecito in Italy. I argue that rather than the reliability of the science, courts and commentators should focus on the validity of the statistical methods of evaluation of the evidence. Even noisy DNA evidence can be more powerful than many traditional types of evidence, and it can be helpful to a court as long as its strength is not overstated. There have been serious shortcomings in statistical methods for the evaluation of LTDNA profile evidence, however. Here, I propose a method that allows for multiple replicates with different rates of dropout, sporadic dropins, different amounts of DNA from different contributors, relatedness of suspected and alternate contributors, "uncertain" allele designations, and degradation. R code implementing the method is open source, facilitating wide scrutiny. I illustrate its good performance using real cases and simulated crime scene profiles.
灵敏度的提高现在使得即使是经过环境暴露降解的样本,也仅需数十皮克的 DNA(对应几个细胞)即可获得 DNA 图谱。然而,低模板 DNA(LTDNA)图谱受到随机效应的影响,例如等位基因的“缺失”和“插入”,以及高度可变的 stutter 峰高。尽管新开发方法的灵敏度对犯罪调查人员极具吸引力,但法院对潜在科学的可靠性表示担忧。依赖 LTDNA 证据的高知名度案件在争议中崩溃,包括英国的 Hoey 案和意大利的 Knox 和 Sollecito 案。我认为,法院和评论员不应关注科学的可靠性,而应关注评估证据的统计方法的有效性。即使是嘈杂的 DNA 证据也可能比许多传统类型的证据更具说服力,只要不过分夸大其强度,对法庭也会有帮助。然而,LTDNA 图谱证据评估的统计方法存在严重缺陷。在这里,我提出了一种方法,允许在不同的缺失率、零星的插入率、不同供体的不同数量的 DNA、疑似供体和替代供体的亲缘关系、“不确定”等位基因指定和降解的情况下进行多次重复。实现该方法的 R 代码是开源的,便于广泛审查。我使用真实案例和模拟犯罪现场图谱来说明其良好的性能。