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亲子鉴定所需单核苷酸多态性(SNP)遗传标记数量的估计。

Estimation of the number of SNP genetic markers required for parentage verification.

作者信息

Baruch E, Weller J I

机构信息

Faculty of Agriculture, Hebrew University of Jerusalem, Rehovot 76100, Israel.

出版信息

Anim Genet. 2008 Oct;39(5):474-9. doi: 10.1111/j.1365-2052.2008.01754.x. Epub 2008 Jun 28.

DOI:10.1111/j.1365-2052.2008.01754.x
PMID:18573124
Abstract

Formulae were developed to compute exclusion probabilities for parentage confirmation for any number of diallelic markers under the assumption that the minor allele frequency (MAF) varied among markers, but has a uniform distribution. Three scenarios were analysed: a progeny with (1) a single putative parent; (2) two putative parents; and (3) one actual parent and one putative parent. Exclusion probabilities were computed for minimum values for the MAFs of 0.1, 0.2 and 0.3, and required either one or at least two conflicts for exclusion. The numbers of markers required to obtain 99% exclusion probabilities based on a single conflict for the three minimum MAFs were 54, 45 and 39 for scenario 1; 17, 16 and 15 for scenario 2; and 28, 25 and 24 for scenario 3. The requirement of at least two conflicts for exclusion increased the number of markers required by approximately 45% for all three scenarios and all three minimum MAFs. The results obtained by the analytical formulae were very close to results obtained by simulation and to values in the literature for specific marker sets.

摘要

在假设次要等位基因频率(MAF)在各标记间有所不同但呈均匀分布的情况下,开发了公式来计算任意数量双等位基因标记用于亲子关系确认的排除概率。分析了三种情况:(1)一个后代与一个推定亲本;(2)一个后代与两个推定亲本;(3)一个后代与一个实际亲本和一个推定亲本。针对MAF的最小值0.1、0.2和0.3计算排除概率,排除需要一个冲突或至少两个冲突。基于单个冲突获得99%排除概率所需的标记数量,对于三种最小MAF,情况1分别为54、45和39;情况2分别为17、16和15;情况3分别为28、25和24。对于所有三种情况和所有三种最小MAF,排除需要至少两个冲突使所需标记数量增加了约45%。通过分析公式获得的结果与通过模拟获得的结果以及文献中特定标记集的值非常接近。

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