Thompson E A
Genetics. 1979 Oct;93(2):479-95. doi: 10.1093/genetics/93.2.479.
Most models in population genetics are models of allele frequency, making implicit or explicit assumptions of equilibrium or constant population size. In recent papers, we have attempted to develop more appropriate models for the analysis of rare variant data in South American Indian tribes; these are branching process models for the total number of replicates of a variant allele. The spatial distribution of a variant may convey information about its history and characteristics, and this paper extends previous models to take this factor into consideration. A model of fission into subdivisions is superimposed on the previous branching process, and variation between subdivisions is considered. The case where fission is nonrandom and the locations of like alleles are initially positively associated, as would happen were a tribal cluster or village to split on familial lines, is also analyzed. The statistics developed are applied to Yanomama Indian data on rare genetic variants. Due to insufficient time depth, no definitive new inferences can be drawn, but the analysis shows that this model provides results consistent with previous conclusions, and demonstrates the general type of question that may be answered by the approach taken here. In particular, striking confirmation of a higher-than-average growth rate, and hence smaller-than-previously-estimated age, is obtained for the Yan2 serum albumen variant.
群体遗传学中的大多数模型都是等位基因频率模型,对平衡或恒定种群大小做出了隐含或明确的假设。在最近的论文中,我们试图开发更合适的模型来分析南美印第安部落中的罕见变异数据;这些是变异等位基因重复总数的分支过程模型。变异的空间分布可能传达有关其历史和特征的信息,本文扩展了先前的模型以考虑这一因素。将细分为子区域的裂变模型叠加在先前的分支过程上,并考虑子区域之间的变异。还分析了裂变是非随机的且相似等位基因的位置最初呈正相关的情况,就像部落群体或村庄沿家族线分裂时会发生的那样。所开发的统计方法应用于雅诺马马印第安人关于罕见遗传变异的数据。由于时间深度不足,无法得出明确的新推论,但分析表明该模型提供的结果与先前的结论一致,并展示了通过此处采用的方法可能回答的一般类型的问题。特别是,对于Yan2血清白蛋白变异体,获得了高于平均增长率的显著证实,因此其年龄比先前估计的要小。