目的:新疆在跨欧亚人口迁移中起着至关重要的作用,语言扩散,文化和技术交流。然而,新疆基因组代表性不足阻碍了对新疆遗传结构和种群历史的更全面了解。
方法:我们收集了70名南疆吉尔吉斯斯坦(SXJK)个体并进行了基因分型,并将数据与现代和古代欧亚人相结合。我们用等位基因频率法,包括PCA,混合物,f-统计,qpWave/qpAdm,ALDER,Treemix,和单倍型共享方法,包括共享IBD段,精细结构,和GLOBETROTTER揭示了精细尺度的种群结构并重建了混合物的历史。
结果:我们确定了SXJK群体中的遗传亚结构,这些亚组显示出与西部和东部欧亚人的不同遗传亲和力。所有SXJK亚组都被认为与周围的突厥语组有密切的遗传关系,即,维吾尔族,来自新疆北部和塔吉克斯坦的吉尔吉斯斯坦,和中国哈萨克族,表明这些人群有共同的祖先。外群f3和对称f4统计数据显示,SXJK与今天的Tungusic具有很高的遗传亲和力,讲蒙古语的人口和古代东北亚(ANA)相关群体。等位基因共享和单倍型共享谱揭示了SXJK的东西混合模式。基于qpAdm的混合模型表明,SXJK起源于东欧亚(ANA和东亚,42.7%-83.3%)和西欧亚(西部草原牧民和中亚,16.7%-57.3%),根据ALDER和GLOBETROTTER分析,最近的东西混合事件可以追溯到1000年前。
结论:SXJK与当今的通古语和蒙古语种群以及短共享的IBD片段具有很高的遗传亲和力,表明它们具有共同的祖先。SXJK与ANA相关种群具有密切的遗传亲和力,表明SXJK的东北亚起源。在SXJK中观察到的西方和东方欧亚混合物模型进一步提供了新疆动态混合物历史的证据。SXJK的东西混合模式和已确定的祖先组成表明,从某些铁器时代的新疆种群到当今的SXJK具有遗传连续性。
Xinjiang plays a vital role in the trans-Eurasian population migration, language diffusion, and culture and technology exchange. However, the underrepresentation of Xinjiang\'s genomes has hindered a more comprehensive understanding of Xinjiang\'s genetic structure and population history.
We collected and genotyped 70 southern Xinjiang\'s Kyrgyz (SXJK) individuals and combined the data with modern and ancient Eurasians published. We used allele-frequency methods, including PCA, ADMIXTURE, f-statistics, qpWave/qpAdm, ALDER, Treemix, and haplotype-shared methods including shared-IBD segments, fineSTRUCTURE, and GLOBETROTTER to unveil the fine-scale population structure and reconstruct admixture history.
We identified genetic substructure within the SXJK population with subgroups showing different genetic affinities to West and East Eurasians. All SXJK subgroups were suggested to have close genetic relationships with surrounding Turkic-speaking groups that is, Uyghur, Kyrgyz from north Xinjiang and Tajikistan, and Chinese Kazakh, suggesting a shared ancestry among those populations. Outgroup-f3 and symmetrical f4 statistics showed a high genetic affinity of SXJK to present-day Tungusic, Mongolic-speaking populations and Ancient Northeast Asian (ANA) related groups. Allele sharing and haplotype sharing profiles revealed the east-west admixture pattern of SXJK. The qpAdm-based admixture models showed that SXJK derived ancestry from East Eurasian (ANA and East Asian, 42.7%-83.3%) and West Eurasian (Western Steppe herders and Central Asian, 16.7%-57.3%), the recent east-west admixture event could be traced to 1000 years ago based on ALDER and GLOBETROTTER analysis.
The high genetic affinity of SXJK to present-day Tungusic and Mongolic-speaking populations and short-shared IBD segments indicated their shared common ancestry. SXJK harbored a close genetic affinity to ANA-related populations, indicating the Northeast Asian origin of SXJK. The West and East Eurasian admixture models observed in SXJK further provided evidence of the dynamic admixture history in Xinjiang. The east-west admixture pattern and the identified ancestral makeup of SXJK suggested a genetic continuity from some Iron Age Xinjiang populations to present-day SXJK.