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对美国国家研究委员会DNA分型报告统计方面的评论

Comments on the statistical aspects of the NRC's report on DNA typing.

作者信息

Devlin B, Risch N, Roeder K

机构信息

Department of Epidemiology and Public Health, Yale University School of Medicine.

出版信息

J Forensic Sci. 1994 Jan;39(1):28-40.

PMID:8113709
Abstract

The goal of the NRC report on DNA typing was to answer a "crescendo of questions concerning DNA typing," many of them in the areas of population genetics and statistics. Unfortunately, few of these questions were answered adequately. In lieu of answering these questions, the panel proposed another conservative method of forensic inference, the "ceiling principle." Aside from its extreme conservativeness, this new method is difficult to justify because it is based on inadequate population genetics and statistical theory. Moreover, in its ultimate implementation, the panel's method will depend on a population genetics study whose rationale is questionable. In this article, we elaborate some of the general comments we made about the NRC report in a recent article [1]. Specifically we cover three topics. First we question the statistical basis for the ceiling principle, showing that the empirical results that motivated the method are likely to be misinterpreted and showing, by power calculations, that the effects of population substructure cannot be substantial. Second, we show that the study design to determine "ceiling" allele frequencies has several undesirable statistical properties. Finally, we discuss the estimation of handling errors from the statistical perspective, a subject treated inadequately by the report.

摘要

美国国家研究委员会(NRC)关于DNA分型的报告目标是回答“关于DNA分型的一连串问题”,其中许多问题涉及群体遗传学和统计学领域。不幸的是,这些问题中很少得到充分解答。作为对这些问题的回应,该小组提出了另一种保守的法医推断方法,即“上限原则”。除了其极端保守性之外,这种新方法难以自圆其说,因为它基于不充分的群体遗传学和统计理论。此外,在其最终实施中,该小组的方法将依赖于一项群体遗传学研究,而其基本原理存在疑问。在本文中,我们详细阐述了我们在最近一篇文章[1]中对NRC报告所做的一些一般性评论。具体来说,我们涵盖三个主题。首先,我们质疑上限原则的统计基础,表明促使该方法产生的实证结果可能被误解,并通过功效计算表明群体亚结构的影响不可能很大。其次,我们表明用于确定“上限”等位基因频率的研究设计具有几个不良的统计特性。最后,我们从统计角度讨论处理误差的估计,这是该报告处理不充分的一个主题。

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Comments on the statistical aspects of the NRC's report on DNA typing.对美国国家研究委员会DNA分型报告统计方面的评论
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引用本文的文献

1
The forensic debut of the NRC's DNA report: population structure, ceiling frequencies and the need for numbers.美国国家研究委员会DNA报告在法医学领域的首次亮相:群体结构、极限频率及数字需求。
Genetica. 1995;96(1-2):99-105. doi: 10.1007/BF01441155.
2
The effects of inbreeding on DNA profile frequency estimates using PCR-based loci.近亲繁殖对使用基于聚合酶链反应(PCR)的基因座估计DNA图谱频率的影响。
Genetica. 1995;96(1-2):21-5. doi: 10.1007/BF01441148.
3
Subjective interpretation, laboratory error and the value of forensic DNA evidence: three case studies.
主观解读、实验室误差与法医DNA证据的价值:三个案例研究
Genetica. 1995;96(1-2):153-68. doi: 10.1007/BF01441161.