Comparison of mitochondrial DNA polymorphism in Crimean Karaites and Crimean Tatars

  • K. A. Efetov Order of the Red Banner of Labor S.I. Georgievsky Medical Institute of the V.I. Vernadsky Crimean Federal University, Simferopol, Russian Federation http://orcid.org/0000-0003-1468-7264
  • D. S. Khodyrev Federal State Budgetary Institution «Federal Scientific and Clinical Center of Specialized Medical Assistance and Medical Technologies» of Federal Biomedical Agency of Russia, Moscow, Russian Federation http://orcid.org/0000-0001-6518-8305
  • I. A. Efremov N.M. Emanuel Institute for Biochemical Physics of the Russian Academy of Sciences, Moscow, Russian Federation; N.I. Vavilov Institute of General Genetics of the Russian Academy of Sciences, Moscow, Russian Federation http://orcid.org/0000-0002-1257-9297
Keywords: Turkic people, Crimean Karaites, Crimean Tatars, mitochondrial DNA (mtDNA), polymorphism, mtDNA haplotypes, mtDNA haplogroups

Abstract

Relevance. Two related Turkic peoples: Crimean Karaites (Karais) and Crimean Tatars, were formed as ethnic groups on the territory that is currently part of the Russian Federation. To date, the genetic polymorphism of the Karai people has been studied insufficiently.

The aim of this work was to study the polymorphism of human mitochondrial DNA to elucidate the matrilineal origin of the Crimean Karaites and Crimean Tatars.

Materials and Methods. Biological samples from 45 subjects (men and women) were collected for molecular genetic study. For all samples, the HVS1, HVS2, and HVS3 segments of the control region of mtDNA were sequenced, followed by determination of mitotypes and haplogroups. The entire study was performed using a "blind" method – information about the nationality and known family ties of individual subjects was not disclosed until genetic results were obtained.

Results. The existence of several matrilineally related groups of individuals was shown for the studied sample: all control a priori related groups, as well as newly discovered related groups. Ten different mtDNA subhaplogroups were identified for Crimean Karaites and 13 for Crimean Tatars. At the level of mega-haplogroups, four (N1, R0, JT, U) were observed in both Crimean Karaites and Crimean Tatars. A detailed comparison of mitotypes and haplogroups of Crimean Karaites and Crimean Tatars with each other and with the closest mitotypes of representatives of the same and other peoples available in the scientific literature, as well as in the open international databases Empop, FamilyTreeDNA, GeneBank and MITOMAP was also carried out.

Conclusion. The use of mtDNA haplogroup predictors is seen as urgently necessary when performing molecular genetic examinations to identify individuals and verify possible kinship. The unreliability and bias of conclusions of a number of authors, who contrary to the results of their own molecular-genetic studies try to discuss the possibility of "Semitic origin" of the Karaites, is shown. The results obtained by us testify to the genetic closeness and unity of origin of two Turkic peoples – Crimean Tatars and Crimean Karaites.

Published
2024-12-28
How to Cite
Efetov, K. A., Khodyrev, D. S., & Efremov, I. A. (2024). Comparison of mitochondrial DNA polymorphism in Crimean Karaites and Crimean Tatars. Patogenez (Pathogenesis), 22(4), 49-63. https://doi.org/10.25557/2310-0435.2024.04.49-63
Section
Clinical researches