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ORIGINAL RESEARCH article

Front. Genet.
Sec. Evolutionary and Population Genetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1513412
This article is part of the Research Topic Forensic Investigative Genetic Genealogy and Fine-Scale Structure of Human Populations, Volume II View all articles

Whole mitochondrial genome analyses of Han population from Shandong of China using massively parallel sequencing

Provisionally accepted
Jiashuo Zhang Jiashuo Zhang 1Xuebo Li Xuebo Li 2*Anqi Chen Anqi Chen 3Mingxia Ding Mingxia Ding 4*Liangliang Li Liangliang Li 2*Yinghua Qi Yinghua Qi 2*Chunli Ding Chunli Ding 2*Dawei Cai Dawei Cai 1*Suhua Zhang Suhua Zhang 3*
  • 1 School of Archaeology, Jilin University, Changchun, Hebei Province, China
  • 2 Institute of Forensic Science, Shandong University of Political Science and Law, Jinan, Shandong, China
  • 3 Institute of Forensic Science, Fudan University, Shanghai, Shanghai Municipality, China
  • 4 The Second Hospital of Shandong University, Jinan, Shandong Province, China

The final, formatted version of the article will be published soon.

    Introduction: Mitochondrial DNA (mtDNA) has been extensively utilized in archeology, human evolutionary genetics, and forensic genetic for over three decades due to its maternally inheritance and relatively high mutation rates. 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. Methods: We performed whole mitochondrial genome sequencing on 141 unrelated Han individuals from Shandong province using massively parallel sequencing. Results: A total of 135 unique mtDNA haplotypes were identified from these individuals, assigned to 105 haplogroups. This resulted in the haplotype diversity value of 0.9993. The discriminatory capacity of whole mitochondrial genome was calculated to be 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 the ancient populations from the Yellow River and West Liao River basins. Additionally, the Shandong Han may have incorporated a significant number of maternal lineages from other regions during their development. The demographic expansion of the Shandong Han is estimated to have occurred around 9,000 years ago, corresponding to the Neolithic period, a time of significant cultural and technological development. Discussion: The dataset generated in this study is now accessible through 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.

    Keywords: Forensic Genetics, Whole mitochondrial genome, Shandong Han, massively parallel sequencing, Population Genetics

    Received: 18 Oct 2024; Accepted: 11 Nov 2024.

    Copyright: © 2024 Zhang, Li, Chen, Ding, Li, Qi, Ding, Cai and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Xuebo Li, Institute of Forensic Science, Shandong University of Political Science and Law, Jinan, 250014, Shandong, China
    Mingxia Ding, The Second Hospital of Shandong University, Jinan, 250012, Shandong Province, China
    Liangliang Li, Institute of Forensic Science, Shandong University of Political Science and Law, Jinan, 250014, Shandong, China
    Yinghua Qi, Institute of Forensic Science, Shandong University of Political Science and Law, Jinan, 250014, Shandong, China
    Chunli Ding, Institute of Forensic Science, Shandong University of Political Science and Law, Jinan, 250014, Shandong, China
    Dawei Cai, School of Archaeology, Jilin University, Changchun, Hebei Province, China
    Suhua Zhang, Institute of Forensic Science, Fudan University, Shanghai, 200433, Shanghai Municipality, China

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