Conrad Donald F, Hurles Matthew E
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
Nat Genet. 2007 Jul;39(7 Suppl):S30-6. doi: 10.1038/ng2042.
Population genetics is central to our understanding of human variation, and by linking medical and evolutionary themes, it enables us to understand the origins and impacts of our genomic differences. Despite current limitations in our knowledge of the locations, sizes and mutational origins of structural variants, our characterization of their population genetics is developing apace, bringing new insights into recent human adaptation, genome biology and disease. We summarize recent dramatic advances, describe the diverse mutational origins of chromosomal rearrangements and argue that their complexity necessitates a re-evaluation of existing population genetic methods.
群体遗传学是我们理解人类变异的核心，通过将医学和进化主题联系起来，它使我们能够理解基因组差异的起源和影响。尽管目前我们对结构变异的位置、大小和突变起源的了解存在局限性，但我们对其群体遗传学的特征描述正在迅速发展，为近期人类适应性、基因组生物学和疾病带来了新的见解。我们总结了近期的重大进展，描述了染色体重排的多种突变起源，并认为它们的复杂性需要重新评估现有的群体遗传方法。
