Genetic variation in the Volga-Ural region1Tuuli
Lappalainen, 2Ella Granö, 3Rem I Sukernik, 2Marja-Liisa Savontaus, 2Kirsi Huoponen, 1Päivi Lahermo
1Finnish Genome Center, University of Helsinki, Haartmaninkatu 8, P.O.Box 63, 00014 University of Helsinki, Finland, 2Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland, 3Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, 630090, Novosibirsk, Lavrentyev aven., 10, Russia
We have analyzed genetic variation among populations in the region around the Ural montains and the Volga river, seeking to clarify the population history of the area. In total over 150 samples from Mari,
Moksha, Erza and Mansi populations were genotyped for 18 Y-chromosomal biallelic polymorphisms and 8 microsatellite loci, and for 18 polymorphisms from the coding area of mtDNA in addition to sequencing of the hypervariable region 1.
Our novel data from northeastern Europe and northwestern Siberia shows that the populations from the Volga-Ural area are a result of a complex set of population processes, including genetic drift and gene flow from various sources at different time frames.
The distribution of mtDNA haplogroups traditionally classified into European and Asian overlaps in Western Siberia (Derbeneva et al. 2002), but not in Eastern Europe.
The distribution of mtDNA haplogroups (HGs) among Mari, Erza and Moksha (N=89) on the western side of the Urals resembles closely west European, with only 3.3% of Asian haplogroups. Furthermore, the distribution of recently characterised subhaplogroups of HGs H and U in the Volga-Ural area will be discussed.
Paternally, the populations differed greatly from each other, which is demonstrated by 47.30% of genetic variation attributed to differences among populations, according to AMOVA analysis of haplogroup frequencies. However, the populations had a rather average degree of variation with haplotype diversities around 0.7 with the exception of the Moksha, whose Y-chromosomal diversity was very low (0.209).
Y-chromosomal haplogroup N3 that is characteristic for the whole Northern Eurasia is common in the Volga-Ural region, with frequencies varying from 5% to over 50%. Its sister group, N2, has a more local distribution around the Urals, and seems to reach somewhat higher frequencies in the eastern side of the mountains (Karafet et al. 2002), than in the studied populations from Northeastern Europe. The distributions of some minor Y-chromosomal haplogroups are intriguing. R1b, I1a and J - common haplogroups in Western, Northern and Eastern Europe, respectively - reach relatively high frequencies among the studied populations. This may refer to late gene flow from Europe or Central Asia, in addition to admixture with Russians. Analysis of Y chromosomal microsatellites is employed to assess the source and significance of different haplogroups found in the study sample.
http://hgm2006.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopPosters/WorkshopPosters06/hgm109.html