Kreitman M
Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA.
Annu Rev Genomics Hum Genet. 2000;1:539-59. doi: 10.1146/annurev.genom.1.1.539.
The development of statistical tests of natural selection at the DNA level in population samples has been ongoing for the past 13 years. The current state of the field is reviewed, and the available tests of selection are described. All tests use predictions from the theory of neutrally evolving sites as a null hypothesis. Departures from equilibrium-neutral expectations can indicate the presence of natural selection acting either at one or more of the sites under investigation or at a sufficiently tightly linked site. Complications can arise in the interpretation of departures from neutrality if populations are not at equilibrium for mutation and genetic drift or if populations are subdivided, both of which are likely scenarios for humans. Attempts to understand the nonequilibrium configuration of silent polymorphism in human mitochondrial DNA illustrate the difficulty of distinguishing between selection and alternative demographic hypotheses. The range of plausible alternatives to selection will become better defined, however, as additional population genetic data sets become available, allowing better null models to be constructed.
在过去13年里，针对群体样本中DNA水平自然选择的统计检验一直在不断发展。本文回顾了该领域的当前状况，并描述了现有的选择检验方法。所有检验都以中性进化位点理论的预测作为零假设。偏离平衡中性预期可能表明在一个或多个被研究位点或紧密连锁位点存在自然选择作用。如果群体在突变和遗传漂变方面未达到平衡，或者群体存在细分情况（这两种情况在人类中都很可能出现），那么在解释偏离中性现象时可能会出现复杂问题。试图理解人类线粒体DNA中沉默多态性的非平衡构型，说明了区分选择与其他群体统计学假设的困难。然而，随着更多群体遗传数据集的出现，能够构建更好的零模型，选择的合理替代范围将得到更明确的界定。
