罕见变异的年龄估计及增加速率

Estimation of age and rate of increase of rare variants.

作者信息

Thompson E A

出版信息

Am J Hum Genet. 1976 Sep;28(5):442-52.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685108/

Abstract

The problem considered is that of estimating the age or rate of increase of a variant on the basis of the present number of replicates observed in a population. In place of previous diffusion equation analyses of age probability distributions, the likelihood for the age is studied on the basis of a discrete branching process model. It is shown that variations inherent in the process of gene evolution in natural populations make it impossible to provide a reliable point estimate of the age of a specified variant, although the likelihood analysis provides a confidence interval which may place useful bounds on the period in which a variant originated. The observed distribution of numbers of several variants may also provide useful information. The problems of estimation are discussed with reference to rare variants arising in American Indian populations.

摘要

所考虑的问题是根据在一个群体中观察到的当前重复数来估计一个变体的年龄或增加率。取代以往对年龄概率分布的扩散方程分析，基于离散分支过程模型研究了年龄的似然性。结果表明，自然群体中基因进化过程中固有的变异使得无法对特定变体的年龄提供可靠的点估计，尽管似然性分析提供了一个置信区间，该区间可能为变体起源的时期提供有用的界限。观察到的几个变体的数量分布也可能提供有用的信息。结合美洲印第安人群体中出现的罕见变体对估计问题进行了讨论。

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本文引用的文献

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The Average Number of Generations until Fixation of a Mutant Gene in a Finite Population.有限种群中突变基因固定之前的平均世代数。

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The demography of two tribes of primitive, relatively unacculturated American Indians.两个原始的、相对未受文化影响的美洲印第安部落的人口统计学情况。

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Am J Hum Genet. 1972 Nov;24(6 Pt 1):667-79.

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Maximum-likelihood estimation of evolutionary trees from continuous characters.基于连续性状的进化树最大似然估计。

Am J Hum Genet. 1973 Sep;25(5):471-92.

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"Private" genetic variants and the frequency of mutation among South American Indians.南美印第安人中的“私有”基因变异及突变频率。

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Am J Hum Genet. 1974 Nov;26(6):669-73.

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The first arrival time and mean age of a deleterious mutant gene in a finite population.有害突变基因在有限群体中的首次出现时间和平均年龄。

Am J Hum Genet. 1975 May;27(3):274-86.

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