Thompson E A, Neel J V
Proc Natl Acad Sci U S A. 1978 Mar;75(3):1442-5. doi: 10.1073/pnas.75.3.1442.
When an unusually high frequency of an allele is encountered in a population, "founder effect" is often invoked as an explanation. As usually used, the term implies the disproportionate increase through chance (rather than selection) of an allele contributed to the population by a particular ancestor. While genetic theory leaves no doubt this is a possible explanation, problems arise when we try to determine how likely this explanation is for any specific finding in any specific, finite population, i.e., just how rare is this rare event? In this communication we consider the question in the context of Amerindian tribal populations, deriving specific probabilities under defined conditions. Our interest in the question has been whetted by the finding to date of some eight possible examples of a founder effect in studies of twelve different tribes.
当在一个群体中遇到某个等位基因的频率异常高时,人们常常会用“奠基者效应”来解释。按照通常的用法,这个术语意味着由某个特定祖先带入群体的等位基因通过偶然(而非选择)而不成比例地增加。虽然遗传理论无疑表明这是一种可能的解释,但当我们试图确定这种解释对于任何特定有限群体中的任何特定发现的可能性有多大时,也就是这个罕见事件究竟有多罕见时,问题就出现了。在本交流中,我们在美洲印第安部落群体的背景下考虑这个问题,推导在特定条件下的具体概率。迄今为止,在对12个不同部落的研究中发现了约8个可能的奠基者效应实例,这激发了我们对这个问题的兴趣。