青藏高原东北缘汉族人群线粒体DNA数据（2022）

为了解青藏高原东北缘人群的母系遗传组成，我们对青海（n=25）、甘肃（n=39）、宁夏（n=310）三个地区汉族人群样本共374个个体进行了线粒体DNA（mtDNA）全基因组变异信息研究。采用SNP芯片技术，获得高分辨率mtDNA突变数据（共4,004个位点，覆盖世界范围内的人群的线粒体DNA系统发育树（PhyloTree.org））。基于系统发育思想，我们对这些数据进行质量控制，确保没有样本污染等质量问题。以修订后的剑桥标准序列参考，进行突变位点的输出。根据世界范围内的人群的线粒体DNA系统发育树（PhyloTree.org），对每个样本进行单倍型类群划分。结果表明，三个地区的mtDNA单倍群频率最高的是D4（17.76%），其次是M8（15.92%）和F1（13.01%）以及G（9.04%）。三个群体的母系遗传结构也存在一定的差异，例如，相比于另外两个群体，青海汉族F1和M9比例较高，宁夏的M8较高，甘肃的主要类群则是D4和B4。此外，三个群体中还存在一定比例的欧亚西部类群，如I、W、UK等，反映了来自欧西西部人群的遗传影响。该结果有助于厘清青藏高原东北地区汉族人群的遗传结构。

To investigate the matrilineal genetic composition of populations on the northeastern margin of the Tibetan Plateau, we conducted a study of complete mitochondrial DNA (mtDNA) genomic variation data from 374 Han individuals sampled from three regions: Qinghai (n=25), Gansu (n=39), and Ningxia (n=310). High-resolution mtDNA mutation data was obtained using SNP microarray technology, encompassing 4,004 sites and covering the mtDNA phylogenetic tree (PhyloTree.org) for global populations. Phylogenetic-based quality control was performed to exclude issues such as sample contamination. Mutation sites were called against the revised Cambridge Reference Sequence (rCRS). Haplogroup assignment was conducted for each sample based on the global population mtDNA phylogenetic tree (PhyloTree.org). The results showed that the most frequent mtDNA haplogroup across the three populations was D4 (17.76%), followed by M8 (15.92%), F1 (13.01%), and G (9.04%). The three populations also exhibited certain differences in their matrilineal genetic structures: for example, compared with the other two groups, the Qinghai Han population had higher proportions of haplogroups F1 and M9, the Ningxia Han population had a higher frequency of M8, while the dominant haplogroups in the Gansu Han population were D4 and B4. Additionally, a certain proportion of West Eurasian haplogroups such as I, W, and UK were present in the three populations, reflecting genetic influences from West Eurasian populations. These results help clarify the genetic structure of Han populations in the northeastern margin of the Tibetan Plateau.

搜集汇总

背景与挑战

背景概述

该数据集包含2022年采集的青藏高原东北缘（青海、甘肃、宁夏）374个汉族个体的线粒体DNA全基因组变异数据，通过SNP芯片技术获取4,004个位点，并基于PhyloTree.org进行单倍型类群划分。结果显示，主要单倍群为D4、M8和F1，且三个地区群体间存在遗传结构差异，同时检测到欧亚西部类群的影响，有助于理解该区域汉族人群的母系遗传组成。