Characteristics of the mitochondrial gene pool of Russian Germans

Nucleotide sequences of the mitochondrial DNA (mtDNA) control region were s tudied in Germans living in the Altai, Russia. Although this ethnic group h as been living in Russia for a long time, the obtained data indicate that i ts mitochondrial gene pool retains the main characteristics of the Western and Central European gene pools. Regarding the mitochondrial gene pool, Rus sian Germans were more similar to Germans living in Germany than to Russian s with regard to the frequency of the Cambridge nucleotide sequence, freque ncies and composition of five European haplotypic groups (classification of Richards et al.), and average intra- and interpopulation pairwise nucleoti de differences. However, the mitochondrial gene pool of Altaian Germans als o differed from that of Western European populations. The gene pool of Alta ian Germans contained the ancestral variants of the main haplotypic groups. To date, these variants have not been found in modern Western and Central European populations, which is apparently due to their lower frequencies. I n addition, some previously unknown mtDNA variants with specific nucleotide substitutions were found in Altaian Germans. The obtained results suggest that the modern mitochondrial gene pool of Europeans, including Germans fro m Germany, was largely affected by the demographic processes that occurred in the past two centuries. The Germans who lived in Russia were relatively isolated and, hence, retained more characteristics of the ancestral gene po ol.