东亚是研究解剖学意义上现代人迁徙和演化的重要地带之一,该地区现代人群的起源及形成问题一直都是人类学领域广泛关注的焦点。遗传学研究为重建东亚人群历史提供了新的视角和见解。越来越多的遗传学证据表明,现代人约20万年前起源于非洲的晚期智人,并于10万年前走出非洲,大约在5~6万年前沿海岸线快速到达东亚南部,进而扩散到整个东亚地区。早期智人可能对走出非洲的现代人有一定程度的遗传贡献。早期定居、文化同化、人群迁徙以及基因交流等,对东亚人群的起源和演化起着至关重要的作用。前期的研究对东亚人群的源流历史进行了细致的分析,很大程度上解决了考古学、历史学等领域长期以来存在的分歧,然而这还需通过全基因组学和古DNA研究的进一步验证。本文从遗传学视角梳理和总结了东亚人群起源、迁徙和演化的历史,完善了对东亚人群演变的系统认识,并对未来东亚人群源流历史研究的发展方向做了展望。

East Asia is widely concerned as one of the important places for the dispersal and evolution of the Anatomically Modern Human (AMH). How the diverse ethnic groups in East Asia originated and diversified is also widely focused by different disciplines of Anthropology. The adoption of genetic data had provided new clues for reconstructing the genetic history of East Asian populations. Genetic studies supported the hypothesis that the AMHs originated from Africa’s Homo sapiens at about 200 kilo years ago (kya) and then migrated out of Africa at ~100 kya, followed by expansions into the whole East Asia since their arrival in Southern East Asia at 5~6 kya along the coastal route. Early Homo Sapiens might have genetic contribution to the non-African AMHs. Early settlement, cultural assimilation, population migration and genetic exchanges are crucial in the origination and evolution of East Asia populations. Previous studies made detailed analysis for the genetic history of East Asian populations, which largely resolved the longstanding divergence between archaeology and history. However, this needs further verification by whole-genome sequencing and ancient DNA studies. Here we briefly reviewed the progresses of genetic studies in exploring the population origin, dispersal and diversification in East Asia, which improved understanding of the evolution of East Asian populations. We also prospected the future of genetic studies in revealing the prehistory of East Asians.