Abstracts

Human Genome Diversity

The comparison of mitochondrial DNA (mtDNA) variation in different European populations has shown moderate homogeneity – there is a plenty of European specific haplogroups (H, I, J, K, U, T, W, X), 80% of which are believed to belong to the Upper Palaeolithic gene pool, but the distribution of frequencies of these are quite similar in most of the populations studied so far. The median network approach of Bandelt et al. (1995) allows to reveal phylogenetically meaningful relationships of various mtDNA haplotypes without loosing information. It also permits more closely to understand special features of maternal lineages of populations and through these also the historical events that could have shaped the formation of modern populations. The studies of the relations of genes (mtDNA, Y-chromosome, autosomal markers) and languages in Europe have revealed that the similarities between geographically more closely related populations are somewhat bigger than between distant ones, irrespective of the language group they belong.

We present here mtDNA analysis (D-loop HVS-1 sequencing combined with RFLP) of Estonians (n = 400), who belong to the Finno-Ugric language group, and compare them with the adjacent populations of Germanic speakers that have historically had a great influence to Estonians - the reflection of it is seen also in Estonian language where the percentage of Germanic loan-words is about a quarter. The Germanic populations under this survey are Swedes (n=300), analysed also by us, Norwegians (Helgason et al. 2001) and Germans (Pfeiffer et al. 2001).

Note. Abstracts are published in author's edition

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