Jia Mansha, Li Qiuyan, Zhang Tingting, Dong Bonan, Liang Xiao, Fu Songbin, Yu Jingcui
Scientific Research Centre, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Front Genet. 2022 Jun 21;13:919063. doi: 10.3389/fgene.2022.919063. eCollection 2022.
Mitochondrial DNA (mtDNA) has the characteristics of maternal inheritance, high mutation rate, high copy number, and no recombination As the most powerful tool for studying the origin and evolution of modern humans, mtDNA has great significance in the research of population genetics and evolutionary genetics. Here, we provide new insights into the maternal genetic history of the Daur ethnic group by generating complete mitochondrial genomes from a total of 146 Daur individuals in China. We also collected the published complete mitochondrial genome sequences of 5,094 individuals from 56 worldwide populations as reference data to further explore the matrilineal genetic landscape of the Daur ethnic group. First, the haplotype diversity was 0.9943 ± 0.0019 and nucleotide diversity was 0.0428 ± 0.0210. The neutrality tests of the Daur group showed significant negative values and the mismatch distribution curve was obviously distributed in a unimodal pattern. The results showed that the Daur ethnic group has high genetic diversity and may have experienced recent population expansion. In addition, the main haplogroups of the Daur population were haplogroup D (31.51%), M* (20.55%), C (10.28%), F (7.53%), and B (6.85%), all of which were prevalent in northern China. It probably implies the northern Chinese origin of the Daur population. The PCA, , and phylogenetic analysis results indicated that the Daur group formed a cluster with East Asian populations, and had few genetic differences with the populations in northern China. More importantly, we found that disease-related mutation sites of the mitochondrial genome may be related to ethnic groups, which may have important implications for the prevention and occurrence of specific diseases. Overall, this study revealed the complexity and diversity of the matrilineal genetic background of the Daur ethnic group. Meanwhile, it provided meaningful data for the research on the diversity of the human genome.
线粒体DNA（mtDNA）具有母系遗传、高突变率、高拷贝数且无重组的特点。作为研究现代人类起源与进化的最有力工具，mtDNA在群体遗传学和进化遗传学研究中具有重要意义。在此，我们通过对中国146名达斡尔族个体的线粒体基因组进行测序，为达斡尔族母系遗传历史提供了新的见解。我们还收集了来自全球56个群体的5094个个体已发表的完整线粒体基因组序列作为参考数据，以进一步探索达斡尔族的母系遗传格局。首先，单倍型多样性为0.9943±0.0019，核苷酸多样性为0.0428±0.0210。达斡尔族群体的中性检验显示出显著的负值，错配分布曲线明显呈单峰模式分布。结果表明，达斡尔族具有较高的遗传多样性，可能经历了近期的群体扩张。此外，达斡尔族群体的主要单倍群为单倍群D（31.51%）、M*（20.55%）、C（10.28%）、F（7.53%）和B（6.85%），这些单倍群在中国北方均较为常见。这可能暗示达斡尔族群体起源于中国北方。主成分分析（PCA）、系统发育分析结果表明，达斡尔族群体与东亚群体聚为一类，与中国北方群体遗传差异较小。更重要的是，我们发现线粒体基因组中与疾病相关的突变位点可能与族群有关，这可能对特定疾病的预防和发生具有重要意义。总体而言，本研究揭示了达斡尔族母系遗传背景的复杂性和多样性。同时，为人类基因组多样性研究提供了有意义的数据。
