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针对哈迪-温伯格平衡定律的真实贝叶斯多等位基因显著性检验。

Genuine Bayesian multiallelic significance test for the Hardy-Weinberg equilibrium law.

作者信息

Pereira C A B, Nakano F, Stern J M, Whittle M R

机构信息

IME - Instituto de Matemática e Estatística & BioInfo - Núcleo de Bioinformática, Universidade de São Paulo, São Paulo, SP, Brasil.

出版信息

Genet Mol Res. 2006 Oct 31;5(4):619-31.

Abstract

Statistical tests that detect and measure deviation from the Hardy-Weinberg equilibrium (HWE) have been devised but are limited when testing for deviation at multiallelic DNA loci is attempted. Here we present the full Bayesian significance test (FBST) for the HWE. This test depends neither on asymptotic results nor on the number of possible alleles for the particular locus being evaluated. The FBST is based on the computation of an evidence index in favor of the HWE hypothesis. A great deal of forensic inference based on DNA evidence assumes that the HWE is valid for the genetic loci being used. We applied the FBST to genotypes obtained at several multiallelic short tandem repeat loci during routine parentage testing; the locus Penta E exemplifies those clearly in HWE while others such as D10S1214 and D19S253 do not appear to show this.

摘要

已经设计出了检测和测量偏离哈迪-温伯格平衡(HWE)的统计检验方法,但在尝试对多等位基因DNA位点的偏差进行检验时存在局限性。在此,我们提出了针对HWE的全贝叶斯显著性检验(FBST)。该检验既不依赖于渐近结果,也不依赖于所评估的特定位点的可能等位基因数量。FBST基于对支持HWE假设的证据指数的计算。大量基于DNA证据的法医推断假定HWE对于所使用的基因位点是有效的。我们将FBST应用于常规亲子鉴定期间在几个多等位基因短串联重复位点获得的基因型;五核苷酸重复序列E位点清楚地显示处于HWE中,而其他位点如D10S1214和D19S253则似乎并非如此。

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