Description and validation of a method for simultaneous estimation of effective population size and mutation rate from human population data.
Description and validation of a method for simultaneous estimation of effective population size and mutation rate from human population data.
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描述和验证从人口数据同时估计有效人口规模和突变率的方法。
DOI：
10.1073/pnas.86.23.9407
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发表时间：
1989
影响因子：
11.1
通讯作者：
Neel,JV
中科院分区：
文献类型：
--
作者：
Chakraborty,R;Neel,JV
提出了一种利用蛋白质电泳变体的群体数据来同时估计相关群体的有效大小（Ne 值）以及在其产物被调查的基因座处产生电形态的突变率的方法。该方法适用于来自 12 个相对未适应文化的美洲印第安部落的数据，这些部落的人口普查数据和 27 个基因座的不同电泳变异数量的独立估计是可用的。由于部落的人口结构，Ne 应小于当前育龄成年人的数量。事实上，7 个部落的比例要大得多，这很可能是由于部落间迁移和最近部落规模的缩小所致。 27 个基因座的基因座突变率估计相差超过 20 倍，每代每个基因座平均为 1.1 x 10(-5)。后一种估计与估计这些部落突变率的其他间接方法的结果令人满意地一致，但比在文明人群研究中基于这些相同基因座的直接估计结果高出约两倍。这种差异可能是由于上述假设的迁移和部落规模的缩小造成的。
A method is presented for utilizing population data on electrophoretic variants of proteins to estimate simultaneously the effective sizes (Ne values) of the populations in question and the rate of mutation resulting in electromorphs at the loci whose products were surveyed. The method is applied to data from 12 relatively unacculturated Amerindian tribes for whom census data and independent estimates of the number of different electrophoretic variants at 27 loci are available. Because of tribal demographic structure, Ne should be less than the current number of reproductive-aged adults. In fact, it is substantially greater for 7 tribes, most likely due to intertribal migration and a recent decrease in tribal size. Estimates of locus mutation rates for the 27 loci vary by more than a factor of 20, with an average of 1.1 x 10(-5) per locus per generation. This latter estimate is in satisfactory agreement with the results of other indirect approaches to the estimation of mutation rates in these tribes but about two times higher than the results of direct estimates based on these same loci in studies on civilized populations. This discrepancy could be due to the above-hypothesized migration and to decreases in tribal size.