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Distribution Peculiarities of Y-Chromosome Haplogroups in the Population of St. Petersburg in Connection with the Problem of Creation of Reference Databases

  • HUMAN GENETICS
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Abstract

In the sample of male residents of St. Petersburg, Y-chromosome haplogroups were determined by genoty** 18 STRs of the Y-chromosome (DYS389I, DYS389II, DYS390, DYS19, DYS385A, DYS385B, DYS456, DYS437, DYS438, DYS447, DYS448, DYS449, DYS391, DYS392, DYS393, DYS439, DYS635, and DYS576), and data on genetic demography were collected by means of a questionnaire. The distribution of Y‑chromosome haplogroups in St. Petersburg residents generally corresponds to the published data on Russian gene pool, with the most frequent haplogroups R1a, R1b, E1b1b1, N, T, I1, I2, J1, and J2, and with the predominance of haplogroup R1a. The presence of “Southern origin” haplogroups (C3, G2a, G2c, J1, J2, L, O2, O3, Q, R2, and T) entering the megalopolis with a flow of migrants, with a total frequency of 16% (in Moscow—18%) was noted. A comparative analysis of the frequency distributions of Y-chromosome haplogroups in residents of St. Petersburg and Moscow revealed statistically significant differences in the frequency of haplogroup E1b1b1 and differences in the ratio of I1 and I2 which may be due to geographical location of megalopolises. On the basis of the survey data, a sample of Russian men who had no ancestors of another ethnicity in the male line in the two previous generations was formed. Significant differences in the frequency of “Southern origin” haplogroups were established between the initial sample of residents of St. Petersburg (16%) and the sample of men with Russian ancestors in two previous generations (4%). The obtained result confirms the spectrum of haplogroups of “Southern origin” as penetrating into the gene pool of the population of a megalopolis with migrant flows and indicates the need for genetic and demographic questionnaires when forming reference databases for a megalopolis, as well as for their timely updating due to changes in the gene pool under the influence of migration.

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ACKNOWLEDGMENTS

We would like to thank our colleagues who conducted the collection of biological samples and the survey of residents of St. Petersburg and the residents of St. Petersburg themselves who took part in the study for valuable cooperation.

Funding

This study was carried out within the framework of the state task of the Vavilov Institute of General Genetics, Russian Academy of Sciences, “Research of Polymorphism at the Cellular, Organismal, and Population Levels as the Basis for the Creation of Genetic Technologies” (no. 0092-2022-0001).

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Correspondence to I. G. Udina.

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ETHICS APPROVAL AND CONSENT TO PARTICIPATE

All procedures performed in human research comply with the ethical standards of the institutional and/or national research ethics committee and the 1964 Declaration of Helsinki and its subsequent amendments or comparable ethical standards.

The study was approved by the Ethics Committee of the Vavilov Institute of General Genetics. Informed voluntary consent was obtained from each of the participants included in the study for the use of biological samples and genetic- demographic data obtained as a result of the questionnaire. The results of the study are presented and stored in an anonymous (impersonal) form.

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The authors declare that they have no conflicts of interest.

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Udina, I.G., Gracheva, A.S., Borinskaya, S.A. et al. Distribution Peculiarities of Y-Chromosome Haplogroups in the Population of St. Petersburg in Connection with the Problem of Creation of Reference Databases. Russ J Genet 59, 1216–1221 (2023). https://doi.org/10.1134/S1022795423110169

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