Diversity of haplogroup R1a-Z2122 in subpopulations of balkars and karachays according to microsatellite diversity

Abstract

Being one of the most mountainous Turkic peoples in the world, the genetic background of the Karachais and Balkars remains poorly understood. The aim of this study is to comprehensively study the haplogroup R1a-Z2122 of the Y-chromosome in the population of Karachais and in the sub-ethnic groups of Balkars. The material for the study was DNA samples from Karachais (n = 126) and Balkars (n = 235). The analysis of the genetic diversity of the population of Karachais and subpopulations of Balkars living in the central part of the North Caucasus region was carried out according to the data on the distribution of Y-SNP (Single nucleotide polymorphism) hap-logroups and Y-STR (Short tandem repeats) haplotypes. According to the results of genotyping of the R1a-Z2122 haplogroup in the Balkar subpopulations, the R1a-Z2122 haplogroup was detected with a frequency of 3.4%, and in the Karachai population - 2.4%. In the course of studying the distribution of this haplogroup in sub-ethnic groups of Balkars, its high content in the group of Chegemians was shown, where it is 6.8% of the diversity of haplogroups of the Y-chromosome. In the group of Baksans, the frequency of this haplogroup decreases to 4.8%, among Bezengievs it is found in 2.6% of the population, and among Malkars in 1.7%, while this haplogroup was not found in the Kholam population. For the analysis of STR-haplotypes of the Y-chromosome, we selected 11 samples belonging to the haplogroup R1a-Z2122. As a result of the construction of the median network and the circular dendrogram, significant variability was shown within the studied sample. The data obtained by us as a result of the research can be used in the development of courses for students of biological, historical and medical specialties. The created unique collection of DNA samples from Balkars and Karachais can subsequently be used for population, evolutionary, and medico-genetic studies.