Y Chromosome as a Tool for DNA Identification and Determination of Ethnoterritorial Origin
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Y Chromosome as a Tool for DNA Identification and Determination of Ethnoterritorial Origin V. N. Kharkova, *, A. A. Zarubina, K. V. Vagaitsevaa, M. O. Radzhabovb, c, L. M. Novikovaa, L. V. Valikhovaa, I. Y. Khitrinskayaa, and V. A. Stepanova aResearch
Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, 634050 Russia b Department of Personalized Medicine, Research Institute of Ecological Medicine, Dagestan State Medical University, Makhachkala, 367000 Russia c Physical Institute, Dagestan Federal Research Center, Russian Academy of Sciences, Makhachkala, 367015 Russia *e-mail: [email protected] Received July 13, 2019; revised December 12, 2019; accepted December 17, 2019
Abstract—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. Keywords: Y chromosome, DNA identification, genetic diversity, runs of homozygosity, human populations DOI: 10.1134/S1022795420090112
INTRODUCTION Analysis of the gene pools structure of human populations using diallelic and microsatellite Y chromosome markers is one of the most advanced and efficient methods for studying the genetic diversity of various human populations and for carrying out comprehensive assessment of the overall human gene pool and gene pools of individual ethnic groups; it is also used in phylogenetic reconstructions of individual lineages, in phylogeographic studies of haplogroups and migration processes, and in several other applications. Despite the rapid development of methods for analysis of population gene pools at the genome-wide level, the use of Y-chromosome markers is still relevant for solving certain problems in population genetics [1–3]. In addition to the fundamental aspects, the results of such studies are also important for the development of methods for DNA identification of human biological samples. Analysis of Y-chromosome markers can be effective in forensics and serve as an alternative to DNA identification using autosomal loci. Additional analysis of Y-chromosome haplotypes is most effective in cases where biological samples contain both male and female DNA, as well as in indirect personal identification when the comparative material is represented mainly by male relatives. The advantage of
Y-chromosome lineages is that they, also being fairly highly informative for “general” DNA identification, are transmitted strictly along the paternal line, making it possib
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