Zhang Jiashuo, Li XueBo, Chen Anqi, Ding Mingxia, Li Liangliang, Qi Yinghua, Ding Chunli, Cai Dawei, Zhang Suhua
School of Archaeology, Jilin University, Changchun, Jilin, China.
Key Laboratory of Evidence Identification in Universities of Shandong Province, Shandong University of Political Science and Law, Jinan, Shandong, China.
Front Genet. 2024 Nov 29;15:1513412. doi: 10.3389/fgene.2024.1513412. eCollection 2024.
Mitochondrial DNA (mtDNA) has been extensively utilized in archeology, human evolutionary genetics, and forensic genetic for over three decades, primarily due to its maternal inheritance and relatively high mutation rate. The Chinese Han, the largest and most widely distributed ethnic group in China, have been the focus of numerous genetic studies. However, the forensic parameters and genetic structure of the Shandong Han, specifically in relation to the whole mitochondrial genome, remain undocumented.
We performed whole mitochondrial genome sequencing on 141 unrelated Han individuals from Shandong province using massively parallel sequencing.
A total of 135 unique mtDNA haplotypes were identified, classified into 105 haplogroups, resulting in a haplotype diversity value of 0.9993. The discriminatory capacity of whole mitochondrial genome was calculated at 0.9574, compared to 0.8936 when only the control region was analyzed. The majority of the haplogroups observed were specific to East Asian lineages, including D4, D5 and F1. Population comparisons revealed that the modern Shandong Han share genetic connections with ancient populations from the Yellow River and West Liao River basins. Additionally, the Shandong Han may have integrated a significant number of maternal lineages from other regions during their development. The demographic expansion of the Shandong Han is estimated to have occurred approximately 9,000 years ago, corresponding to the Neolithic period, a time of significant cultural and technological development.
The dataset generated in this study is available in the EMPOP database under the accession number EMP00886 and will serve as an important mtDNA reference for forensic casework in China. The study of whole mitochondrial genome based on the analysis of matrilineal genetic structure of the Shandong Han population can help to enrich the forensic mtDNA reference database in East Asia and provide reference for future archeology and forensic genetics research.
三十多年来，线粒体DNA（mtDNA）已在考古学、人类进化遗传学和法医遗传学中得到广泛应用，这主要归功于其母系遗传和相对较高的突变率。汉族是中国最大且分布最广的民族，一直是众多基因研究的重点。然而，山东汉族的法医参数和基因结构，特别是与整个线粒体基因组相关的内容，仍未得到记录。
我们使用大规模平行测序技术对141名来自山东省的无血缘关系的汉族个体进行了全线粒体基因组测序。
共鉴定出135种独特的mtDNA单倍型，分为105个单倍群，单倍型多样性值为0.9993。全线粒体基因组的鉴别能力计算为0.9574，而仅分析控制区时为0.8936。观察到的大多数单倍群特定于东亚谱系，包括D4、D5和F1。群体比较显示，现代山东汉族与黄河流域和西辽河流域的古代群体存在基因联系。此外，山东汉族在其发展过程中可能整合了大量来自其他地区的母系谱系。山东汉族的人口扩张估计发生在大约9000年前，对应于新石器时代，这是一个文化和技术显著发展的时期。
本研究生成的数据集可在EMPOP数据库中获取，登录号为EMP00886，将作为中国法医案件工作的重要mtDNA参考。基于山东汉族群体母系遗传结构分析的全线粒体基因组研究有助于丰富东亚法医mtDNA参考数据库，并为未来的考古学和法医遗传学研究提供参考。
