Abstracts

Human Genome Diversity

Y-chromosome and mtDNA variation was analyzed in a sample of 1711 individuals (1135 females and 576 males) from nine indigenous populations of Siberia (Tuva, Buriat, Northern and Southern Altai, Evenk, Yakut) and Central Asia (Kirghiz, Uzbek, Tajik).

Paternal lineages was constructed using 11 biallelic and 7 microsatellite loci. Distribution of 10 biallelic haplogroups (HGs) forming the parsimonious genealogical tree displays distinct ethno-geographic differences. Most frequent haplogroups in the total sample were HG3 (26.4%) and HG16 (23.2%). HG16 encompassed 35-90% of Y chromosomes in Yakuts, Buriats and Evenks, whereas HG3 reached the highest frequency in Altai and Kirghiz populations. Principal component analysis of biallelic data shows that populations of Central Asia and Altay-Sayan region clearly separated from the Eastern Siberians because of high frequency of HG16 in the latter. Using the molecular variance of microsatellite loci within the biallelic HGs we estimate the time to the most recent common ancestor for several frequent HGs. According our data, the coalescent age of HG3 which is widely distributed in Europe and Northern Asia is around 13200 YBP. The STR diversity associated with HG12 provided age estimate of about 6250 YPB, and the age of HG16 which is derivate of HG12 was estimated as about 4250 YPB.

Mitochondrial DNA polymorphism has been investigated by RFLP analysis (with assessment of haplogroups A, B, F, H, M). For Altai, Kirghiz, Uzbeks and Yakuts full RFLP - HVR1 sequencing analysis was carried out.

In all populations both West-Eurasian and East-Eurasian haplotypes are presented. The highest diversity was observed in Central Asian populations (Kirghiz, Uzbek, Tajik). The populations investigated (except Tajiks) can be classified into two groups by the ancestry of the mtDNA haplogroups and by their frequencies. In the mitochondrial gene pool of Central Asian populations, as well as in Altai, both ‘Caucasoid’ (U, H, J, I, T, X) and ‘Mongoloid’ (A, B, F, M, N9) mtDNA haplogroups are presented with considerable frequency. Siberian populations (Tuva, Buriats, Evenks, Yakuts) show the prevalence of East-Eurasian mtDNA lineages, mainly M (70-80%); the frequency of haplogroup H does not exceed 5%. In the Tajiks, West-Eurasian lineages predominate (fraction of Mongoloid lineages is no more then 10%).

Our findings suggest that the both Y-chromosome and mtDNA variation correlates with antropological characteristics of the populations and their spatial localization rather than their linguistic affiliation.

Note. Abstracts are published in author's edition

|Home Page| |English Part|

Go to Home