Long Jeffrey C, Kittles Rick A
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618, USA.
Hum Biol. 2003 Aug;75(4):449-71. doi: 10.1353/hub.2003.0058.
Sewall Wright's population structure statistic, F(ST), measured among samples of world populations is often 15% or less. This would indicate that 85% of genetic variation occurs within groups while only 15% can be attributed to allele frequency differences among groups. In this paper, we show that this low value reflects strong biases that result from violating hidden assumptions that define F(ST). These limitations on F(ST) are demonstrated algebraically and in the context of analyzing dinucleotide repeat allele frequencies for a set of eight loci genotyped in eight human groups and in chimpanzees. In our analyses, estimates of F(ST) fail to identify important variation. For example, when the analysis includes only humans, F(ST) = 0.119, but adding the chimpanzees increases it only a little, F(ST) = 0.183. By relaxing the underlying statistical assumptions, the results for chimpanzees become consistent with common knowledge, and we see a richer pattern of human genetic diversity. Some human groups are far more diverged than would be implied by standard computations of F(ST), while other groups are much less diverged. We discuss the relevance of these findings to the application of biological race concepts to humans. Four different race concepts are considered: typological, population, taxonomic, and lineage. Surprisingly, a great deal of genetic variation within groups is consistent with each of these concepts. However, none of the race concepts is compatible with the patterns of variation revealed by our analyses.
在世界人群样本中测得的休厄尔·赖特的群体结构统计量F(ST)通常为15%或更低。这表明85%的遗传变异发生在群体内部,而只有15%可归因于群体间的等位基因频率差异。在本文中,我们表明这个低值反映了违反定义F(ST)的隐含假设所导致的强烈偏差。F(ST)的这些局限性通过代数方法以及在分析八个人类群体和黑猩猩中八个基因座的二核苷酸重复等位基因频率的背景下得到了证明。在我们的分析中,F(ST)的估计未能识别出重要的变异。例如,当分析仅包括人类时,F(ST)=0.119,但加入黑猩猩后仅略有增加,F(ST)=0.183。通过放宽潜在的统计假设,黑猩猩的结果变得与常识一致,并且我们看到了更丰富的人类遗传多样性模式。一些人类群体的差异远比F(ST)的标准计算所暗示的要大,而其他群体的差异则小得多。我们讨论了这些发现与将生物种族概念应用于人类的相关性。考虑了四种不同的种族概念:类型学概念、群体概念、分类学概念和谱系概念。令人惊讶的是,群体内部的大量遗传变异与这些概念中的每一个都是一致的。然而,没有一个种族概念与我们的分析所揭示的变异模式相兼容。