Abstract:
Background The Kazakhs are one of the biggest Turkic-speaking ethnic groups, controlling vast swaths of land
from the Altai to the Caspian Sea. In terms of area, Kazakhstan is ranked ninth in the world. Northern, Eastern,
and Western Kazakhstan have already been studied in relation to genetic polymorphism 27 Y-STR. However, current
information on the genetic polymorphism of the Y-chromosome of Southern Kazakhstan is limited only by 17 Y-STR
and no geographical study of other regions has been studied at this variation.
Results The Kazakhstan Y-chromosome Haplotype Reference Database was expanded with 468 Kazakh males
from the Zhambyl and Turkestan regions of South Kazakhstan by having their 27 Y-STR loci and 23 Y-SNP markers
analyzed. Discrimination capacity (DC=91.23%), haplotype match probability (HPM=0.0029) and haplotype diversity
(HD=0.9992) are defned. Most of this Y-chromosome variability is attributed to haplogroups C2a1a1b1-F1756 (2.1%),
C2a1a2-M48 (7.3%), C2a1a3-F1918 (33.3%) and C2b1a1a1a-M407 (6%). Median-joining network analysis was applied
to understand the relationship between the haplotypes of the three regions. In three genetic layer can be described
the position of the populations of the Southern region of Kazakhstan—the geographic Kazakh populations of Kazakhstan, the Kazakh tribal groups, and the people of bordering Asia.
Conclusion The Kazakhstan Y-chromosome Haplotype Reference Database was formed for 27 Y-STR loci with a total
sample of 1796 samples of Kazakhs from 16 regions of Kazakhstan. The variability of the Y-chromosome of the Kazakhs
in a geographical context can be divided into four main clusters—south, north, east, west. At the same time,
in the genetic space of tribal groups, the population of southern Kazakhs clusters with tribes from the same region,
and genetic proximity is determined with the populations of the Hazaras of Afghanistan and the Mongols of China.
