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利用数学约束来解释等位基因共享差异的狭窄范围。

Using mathematical constraints to explain narrow ranges for allele-sharing dissimilarities.

作者信息

Liu Xiran, Ahsan Zarif, Rosenberg Noah A

机构信息

Institute for Computational and Mathematical Engineering, Stanford University, Stanford, CA 94305.

Department of Biology, Stanford University, Stanford, CA 94305.

出版信息

bioRxiv. 2024 Nov 21:2024.11.19.624404. doi: 10.1101/2024.11.19.624404.

Abstract

Allele-sharing dissimilarity (ASD) statistics are measures of genetic differentiation for pairs of individuals or populations. Given the allele-frequency distributions of two populations-possibly the same population-the expected value of an ASD statistic is computed by evaluating the expectation of the pairwise dissimilarity between two individuals drawn at random, each from its associated allele-frequency distribution. For each of two ASD statistics, which we term and , we investigate the extent to which the expected ASD is constrained by allele frequencies in the two populations; in other words, how is the magnitude of the measure bounded as a function of the frequency of the most frequent allelic type? We first consider dissimilarity of a population with itself, obtaining bounds on expected ASD in terms of the frequency of the most frequent allelic type in the population. We then examine pairs of populations that might or might not possess the same most frequent allelic type. Across the unit interval for the frequency of the most frequent allelic type, the expected allele-sharing dissimilarity has a range that is more restricted than the [0, 1] interval. The mathematical constraints on expected ASD assist in explaining a pattern observed empirically in human populations, namely that when averaging across loci, allele-sharing dissimilarities between pairs of individuals often tend to vary only within a relatively narrow range.

摘要

等位基因共享差异(ASD)统计量是衡量个体或群体对之间遗传分化的指标。给定两个群体(可能是同一个群体)的等位基因频率分布,通过评估从其相关等位基因频率分布中随机抽取的两个个体之间成对差异的期望值,来计算ASD统计量的期望值。对于我们称为 和 的两个ASD统计量,我们研究预期ASD受两个群体中等位基因频率约束的程度;换句话说,该测量值的大小如何作为最常见等位基因类型频率的函数受到限制?我们首先考虑一个群体与其自身的差异,根据群体中最常见等位基因类型的频率获得预期ASD的界限。然后我们检查可能拥有或不拥有相同最常见等位基因类型的群体对。在最常见等位基因类型频率的单位区间内,预期的等位基因共享差异的范围比[0, 1]区间更受限制。预期ASD的数学约束有助于解释在人类群体中凭经验观察到的一种模式,即当对多个基因座进行平均时,个体对之间的等位基因共享差异通常仅在相对较窄的范围内变化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be15/11601660/9deed5afe3b1/nihpp-2024.11.19.624404v1-f0001.jpg

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