Thompson E A, Neel J V, Smouse P E, Barrantes R
Department of Statistics, University of Washington, Seattle 98195.
Am J Hum Genet. 1992 Sep;51(3):609-26.
Models are developed for the survival, history, and spread of variant alleles, in order to consider what can, and what cannot, be inferred from this type of data. The high variances of the processes involved, and questions of sampling, place severe limitations on inferences. Nonetheless, by combining information on a number of rare variants observed in a group of interrelated populations, reliable qualitative inferences are possible. These ideas and models are developed in the context of data on five rare variants and six private polymorphisms observed in eight Chibcha-speaking tribes of Costa Rica and Panama. The decline and fragmentation of the Amerindian populations of Central America over the last 300 years create considerable difficulties in attempting inference of past genetic events. However, these tribes have been well studied genetically, anthropologically, and linguistically and thus provide an excellent framework for the study of rare-variant spread.
为了考虑从这类数据中可以推断出什么以及不能推断出什么,我们开发了关于变异等位基因的存活、历史和传播的模型。所涉及过程的高变异性以及抽样问题对推断造成了严重限制。尽管如此,通过整合在一组相互关联的人群中观察到的多个罕见变异的信息,还是有可能做出可靠的定性推断。这些想法和模型是在对哥斯达黎加和巴拿马八个说奇布查语的部落中观察到的五个罕见变异和六个私有多态性的数据背景下开发的。在过去300年中,中美洲美洲印第安人口的减少和碎片化给试图推断过去的遗传事件带来了相当大的困难。然而,这些部落已经在遗传学、人类学和语言学方面得到了充分研究,因此为研究罕见变异的传播提供了一个极好的框架。