...widely in studying the population genetic history and the peopling of different regions of the world. Previous mtDNA studies have shown that Slavonic- and Baltic-speaking populations share a common genetic substratum characteristic of Central and Eastern European populations, such as German and western Finno-Ugric populations (Malyarchuk et al. 2002; Pliss et al. 2006). Malyarchuk et al. (2003) suggested that this genetic substratum also penetrates southeastern European populations (such as the Bosnians and Slovenians), thus reaching territory as far as the Western Balkans. Clustering of most Slavonic populations (Poles, Russians, Slovenians, Bosnians, Herzegovinians, Macedonians, Serbians, Croatians), with the exception of the island populations of Croatians, has also been revealed in the mtNDA study of southeastern Europeans (Cvjetan et al. 2004).

Meanwhile, Slavonic population samples have been analyzed in different ways. Some studies covered only mtDNA noncoding hypervariable segment I (HVS I) or, in addition, HVS II (Malyarchuk et al. 1995; Calafell et al. 1996; Orekhov et al. 1999; Vanecek et al. 2004; Zupanic Pajnic et al. 2004); other studies also included coding-region RFLP markers diagnostic of all major mtDNA clusters present in human populations (Richards et al. 2000; Tolk et al. 2000; Malyarchuk and Derenko 2001; Belyaeva et al. 2003; Cvjetan et al. 2004; Malyarchuk et al. 2004). Combined HVS I and II sequencing and RFLP analysis appears to be useful for phylogeographic interpretations of mtDNA variation data. However, only a limited number of Slavonic population samples--Russians, Poles, Bosnians, and Slovenians (Malyarchuk et al. 2002, 2003)--have been investigated using this high-resolution approach. Thus many populations of the Slavs remain underexplored at the present time. The aim of the present study is to characterize the mtDNA variation (based on variation of the HVS I and HVS II sequences typed for the presence of major Eurasian haplogroup-specific RFLP markers) in a Czech population representing Western Slavs. This study allowed us to obtain a better characterization of Slavonic mtDNA variability and to extend conclusions about phylogenetic relationships between European populations and the ethnic history of the Slavs.

Materials and Methods

Population Samples. A population sample of 179 Czech individuals from Western Bohemia was studied. All participating individuals were maternally unrelated and originated from the area considered for this study. Appropriate informed consent was obtained from all participants.

mtDNA HVS I and II Sequencing. The total DNA was isolated from blood samples with a QIAamp DNA Blood Mini kit (QIAgen, Hilden, Germany) according to the manufacturer's protocol. Ten nanograms of DNA was amplified using primers L15926 and H580, as described previously (Allen et al. 1998). Sequencing reactions were carried out using the Big Dye Terminator sequencing kit (Applied Biosystems, Foster City, California) and primers L15996, L29, H7, H271, H408, and H580 (Allen et al. 1998; Vanecek et al. 2004). Sequencing products were analyzed on an ABI Prism 310 automatic sequencer (Applied Biosystems). The nucleotide sequences from position 15997 to 16400 and from position 30 to 407 were determined and compared with the revised Cambridge Reference Sequence (Anderson et al. 1981; Andrews et al. 1999).

mtDNA RFLP Analysis. To determine the haplogroup status of the control region sequences, we performed RFLP typing using a restriction endonuclease analysis of PCR-amplified mtDNA fragments using the same primer pairs and amplification conditions as described by Torroni et al. (1996) and Finnila et al. (2000). The samples were typed for a set of RFLPs that were diagnostic of all major Eurasian clusters, on the basis of the hierarchical mtDNA RFLP scheme (Macaulay et al. 1999; Richards et al. 2000; Yao et al. 2002; Loogvali et al. 2004). The table reporting 33 RFLP markers analyzed in this study can be provided upon request from B. Malyarchuk. HVS I and II sequences, belonging to haplogroups N1a, N1b, N9a, U1, U2c, U3, and U5, were identified on the basis of the mtDNA classification (Kong et al. 2003; Palanichamy et al. 2004; Achilli et al. 2004, 2005).

Phylogeographic and Statistical Analysis. Genetic variation was analyzed using methods implemented in Arlequin, version 2.0 (Schneider et al. 2000). The statistical significance of [F.sub.ST] values was estimated by permutation analysis using 10,000 permutations. Multidimensional scaling analysis of pairwise interpopulation [F.sub.ST] values was performed by means of the software package Statistica (Stat-Soft Inc., Tulsa, Oklahoma).

For statistical analysis we used data from the following populations: 200 southern Germans (Lutz et al. 1998); 101 Austrians (Parson et al. 1998); 150 western Germans (Baasner et al. 1998; Baasner and Madea 2000); 104 Slovenians and 144 Bosnians (Malyarchuk et al. 2003); 436 Poles and 201 Russians (Malyarchuk et al. 2002); and 50 Finns, 47 Estonians, and 83 Karelians (Sajantila et al. 1995). For purposes of phylogeographic analysis we used all available published data on HVS I mtDNA variability or RFLPs in Slavonic-speaking populations (in addition to the aforementioned population samples): Bulgarians (Calafell et al. 1996; Richards et al. 2000); Russians (Malyarchuk et al. 1995; Orekhov et al. 1999; Richards et al. 2000; Malyarchuk et al....

NOTE: All illustrations and photos have been removed from this article.



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