Vaidutis Kučinskas
Y Chromosome DNA Analysis: Variation Among Ethno-Linguistic Groups of Lithuania
Ingrida Uktverytė, Oleg Balanovsky, Elena Balanovska, Vaidutis Kučinskas
Background. The territory of the present day Lithuania was initially settled 12-13 thousand years before present. Limitation of anthropological data regarding Neolithic and Mesolithic inhabitants can be covered and supplemented with the data from Lithuanian population genomic studies. The aim of this study is to analyze the genetic diversity in different ethnolinguistic groups of Lithuanian population. Y chromosome was analyzed, because it has been generally recognized as one of the most informative genetic systems for human population studies.
Material and methods. Genomic DNA was extracted using phenolchlorophorm method from 301 Lithuanian individuals representing six ethnolinguistic regions of Lithuania. Each chromosome was typed using TaqMan® SNP genotyping method to define haplogroup according to the International Society of Genetic Genealogy Y-DNA tree (25 SNP markers were used). Within each haplogroup the Y chromosomal STR haplotypes were determined using Applied Biosystems™ AmpFlSTR® Yfiler™ kit (17 STR markers).
Results. In all ethno-linguistic groups the most frequent haplogroups were N1c1 and R1a1a. Results of AMOVA revealed that only 2% of total Y chromosome variation is due to variation within ethnolinguistic groups, while for most other European nations this parameter is generally larger; this corresponds with relatively small geographic area of Lithuania. MDS analysis placed ethno-linguistic groups according to their geographical position.
Conclusions. Study results confirm Lith u a nian pop u la tion ho mo ge ne ity, however, there is evidence that there could be some kind of poput ation structure. AMOVA and MDS analysis support possibility of geographically structured model.
Keywords: Y chromosome, population genetics, haplogroup, haplotype, ethnolinguistic group.