Keinan Alon, Mullikin James C, Patterson Nick, Reich David
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
Nat Genet. 2007 Oct;39(10):1251-5. doi: 10.1038/ng2116. Epub 2007 Sep 9.
Large data sets on human genetic variation have been collected recently, but their usefulness for learning about history and natural selection has been limited by biases in the ways polymorphisms were chosen. We report large subsets of SNPs from the International HapMap Project that allow us to overcome these biases and to provide accurate measurement of a quantity of crucial importance for understanding genetic variation: the allele frequency spectrum. Our analysis shows that East Asian and northern European ancestors shared the same population bottleneck expanding out of Africa but that both also experienced more recent genetic drift, which was greater in East Asians.
近期已经收集了关于人类遗传变异的大量数据集,但是由于选择多态性的方式存在偏差,这些数据集对于了解历史和自然选择的作用有限。我们报告了来自国际人类基因组单体型图计划(International HapMap Project)的大量单核苷酸多态性(SNP)子集,这些子集使我们能够克服这些偏差,并为理解遗传变异提供对一个至关重要的量的准确测量:等位基因频率谱。我们的分析表明,东亚和北欧祖先在走出非洲时经历了相同的种群瓶颈扩张,但两者也都经历了更近的遗传漂变,其中东亚人的遗传漂变更大。