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Y Chromosome as a Tool for DNA Identification and Determination of Ethnoterritorial Origin


Genetic diversity of a large number of populations is analyzed using various Y-chromosome markers. Genotyping of a wide range of novel highly informative SNP and YSTR markers shows that most of the Y-chromosome haplogroups can be divided not only into ethnically specific lineages but also into narrower sublineages and clusters of haplotypes. A significant extent of population and interethnic genetic differentiation is revealed. Most ethnic gene pools are characterized by the predominance or even complete dominance of specific SNPs across all major haplogroups, that is highly promising for the application in ethnic identification of biological samples of males.

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This work was carried out as part of the Union State Scientific and Technical Program “Development of Innovative Genogeographic and Genomic Technologies for Personal Identification and Identification of Individual Characteristics Based on the Study of Gene Pools of the Union State Regions” (“DNA Identification”), state contract no. 011-17 of September 26, 2017, and also supported by the Russian Foundation for Basic Research (grant no. 18-29-13045) “Human Population Genomics and Transcriptomics: Search for the Signals of Non-Neutral Evolution.”

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Correspondence to V. N. Kharkov.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in this study involving people comply with the ethical standards of the institutional and/or national committee for research ethics and the 1964 Helsinki Declaration and its subsequent changes or comparable ethical standards. Informed consent was obtained from each of the participants in the study.

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Translated by K. Lazarev

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Kharkov, V.N., Zarubin, A.A., Vagaitseva, K.V. et al. Y Chromosome as a Tool for DNA Identification and Determination of Ethnoterritorial Origin. Russ J Genet 56, 1109–1117 (2020).

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  • Y chromosome
  • DNA identification
  • genetic diversity
  • runs of homozygosity
  • human populations