Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335.
The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearrangements that vary in size from 1.08-1.49 Mb and provide evidence for a 30-kb H1-H2 double recombination event. We show that recurrent partial duplications of the KANSL1 gene have occurred on both the H1 and H2 haplotypes and have risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2') lacking these duplications that is enriched among African hunter-gatherer groups yet essentially absent from West African populations. Whereas H1 and H2 segmental duplications arose independently and before human migration out of Africa, they have reached high frequencies recently among Europeans, either because of extraordinary genetic drift or selective sweeps.
17q21.31 倒位多态性以直接（H1）或倒置（H2）单倍型存在，它们对疾病和选择具有不同的倾向性。我们研究了其在 2700 个人中的遗传多样性，重点关注非洲人群。我们由于复杂的重排而表征了八个结构单倍型，其大小从 1.08-1.49Mb 不等，并提供了 H1-H2 双重组事件的 30kb 的证据。我们表明，KANSL1 基因的反复部分重复已经发生在 H1 和 H2 单倍型上，并在欧洲人群中上升到高频率。我们确定了一种可能的祖先 H2 单倍型（H2'），它缺乏这些重复，在非洲狩猎采集者群体中丰富，但在西非人群中基本不存在。虽然 H1 和 H2 片段重复是独立发生的，并且发生在人类离开非洲之前，但它们最近在欧洲人中达到了高频率，这要么是由于非凡的遗传漂变，要么是由于选择清除。
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