Journal of Human Genetics

, Volume 52, Issue 4, pp 308–316 | Cite as

Population history of the Dniester–Carpathians: evidence from Alu markers

  • Alexander VarzariEmail author
  • Wolfgang Stephan
  • Vadim Stepanov
  • Florina Raicu
  • Radu Cojocaru
  • Yuri Roschin
  • Cristiana Glavce
  • Valentin Dergachev
  • Maria Spiridonova
  • Horst D. Schmidt
  • Elisabeth Weiss
Original Article


The area between the Dniester and the eastern Carpathian mountain range is at a geographical crossroads between eastern Europe and the Balkans. Little is known about the genetics of the population of this region. We performed an analysis of 12 binary autosomal markers in samples from six Dniester–Carpathian populations: two Moldavian, one Romanian, one Ukrainian and two Gagauz populations. The results were compared with gene frequency data from culturally and linguistically related populations from Southeast Europe and Central Asia. Small genetic differences were found among southeastern European populations (in particular those of the Dniester–Carpathian region). The observed homogeneity suggests either a very recent common ancestry of all southeastern European populations or strong gene flow between them. Despite this low level of differentiation, tree reconstruction and principle component analyses allowed a distinction between Balkan–Carpathian (Macedonians, Romanians, Moldavians, Ukrainians and Gagauzes) and eastern Mediterranean (Turks, Greeks and Albanians) population groups. The genetic affinities among Dniester–Carpathian and southeastern European populations do not reflect their linguistic relationships. The results indicate that the ethnic and genetic differentiations occurred in these regions to a considerable extent independently of each other. In particular, Gagauzes, a Turkic-speaking population, show closer affinities to their geographical neighbors than to other Turkic populations.


Alu insertion DNA polymorphism Moldavians Romanians Ukrainians Gagauzes Population structure 



We are grateful to all donors for providing blood samples and to the people who contributed to their collection. We also thank B. Joffe, B. Nürnberger and the anonymous reviewers for helpful comments and suggestions. E.W. was supported by FCI and DFG, W. S. by the Volkswagen-Foundation and DFG, and A.V. by the DAAD. V.S. and M.S. were supported by the Russian Federation for basic research (grant 03-04-4902) and by a grant from the President of the Russian Federation (grant MD-88.2003.04).


  1. Alexeev VP (1974) Geography of human races (in Russian). Nauka, MoscowGoogle Scholar
  2. Antunez-de-Mayolo G, Antunez-de-Mayolo A, Antunez-de-Mayolo P, Papiha PS, Hammer M, Yunis JJ, Yunis EJ, Damodaran Ch, Martinez de Pancorbo M, Caeiro HL, Puzyrev VP, Herrera RJ (2002) Phylogenetics of worldwide human populations as determined by polymorphic Alu insertions. Electrophoresis 23:3346–3356PubMedCrossRefGoogle Scholar
  3. Arcot SS, Fontius JJ, Deininger PL, Batzer MA (1995a) Identification and analysis of a “young” polymorphic Alu element. Biochim Biophys Acta 1263:99–02Google Scholar
  4. Arcot SS, Wang Z, Weber JL, Deininger PL, Batzer MA (1995b) Alu repeats: a source for the genesis of primate microsatellites. Genomics 29:136–144CrossRefGoogle Scholar
  5. Batzer MA, Arcot SS, Phinney JM, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJ, Deininger PL, Stoneking M (1996) Genetic variation of recent Alu insertions in human populations. J Mol Evol 42:22–29PubMedCrossRefGoogle Scholar
  6. Calafell F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L (1996) From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks. Ann Hum Genet 60:35–49PubMedGoogle Scholar
  7. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, PrincetonGoogle Scholar
  8. Cinnioğlu C, King R, Kivisild T, Kalfoglu E, Atasoy S, Cavalleri GL, Lillie AS, Roseman CC, Lin AA, Prince K, Oefner PJ, Shen P, Semino O, Cavalli-Sforza LL, Underhill PA (2004) Excavating Y chromosome haplotype strata in Anatolia. Hum Genet 114:127–148PubMedCrossRefGoogle Scholar
  9. Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J, Sajantila A (2000) Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits. Hum Genet 107:312–319PubMedCrossRefGoogle Scholar
  10. Comas D, Schmid H, Braeuer S, Flaiz C, Busquets A, Calafell F, Bertranpetit J, Scheil H-G, Huckenbeck W, Efremovska L, Schmidt HD (2004) Alu insertion polymorphisms in the Balkans and the origins of the Aromuns. Ann Hum Genet 68:120–127PubMedCrossRefGoogle Scholar
  11. Dergachev VA (1999) The particularities of the cultural development of the region between the Carpathians and Dniester (in Russian). Stratum plus 2:169–221Google Scholar
  12. Excoffier L, Smouse P, Quattro J (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491PubMedGoogle Scholar
  13. Felsenstein J (1993) PHYLIP, version 3.5. University of Washington Press, SeattleGoogle Scholar
  14. Guboglo MN (1967) The ethnic affiliation of the Gagauzes (in Russian). Sov Etnograf 3:160–167Google Scholar
  15. Guo S, Thompson E (1992) Performing the exact test of Hardy–Weinberg proportion for multiple alleles. Biometrics 48:361–372PubMedCrossRefGoogle Scholar
  16. Jorde LB, Wooding SP (2004) Genetic variation, classification and ‘race’. Nat Genet 36:28–33CrossRefGoogle Scholar
  17. Khitrinskaya IYu, Stepanov VA, Puzyrev VP, Spiridonova MG, Voevoda MI (2003) Genetic differentiation of the population of Central Asia inferred from autosomal markers. Russ J Genet 39:1175–1183CrossRefGoogle Scholar
  18. Kutuev I, Khusainova R, Karunas A, Yunusbayev B, Fedorova S, Lebedev Y, Hunsmann G, Khusnutdinova E (2006) From East to West: patterns of genetic diversity of populations living in four Eurasian regions. Hum Hered 61:1–9PubMedCrossRefGoogle Scholar
  19. Majumder PP, Roy B, Banerjee S, Chakraborty M, Dey B, Mukherjee N, Roy M, Thakurta PG, Sil SK (1999) Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications. Eur J Hum Genet 7:435–446PubMedCrossRefGoogle Scholar
  20. Malaspina P, Tsopanomichalou M, Duman T, Stefan M, Silvestri A, Rinaldi B, Garcia O, Giparaki M, Plata E, Kozlov AI, Barbujani G, Vernesi C, Papola F, Ciavarella G, Kovatchev D, Kerimova MG, Anagnou N, Gavrila L, Veneziano L, Akar N, Loutradis A, Michalodimitrakis EN, Terrenato L, Novelletto A (2001) A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area. Ann Hum Genet 65:339–349PubMedCrossRefGoogle Scholar
  21. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedCrossRefGoogle Scholar
  22. Nasidze I, Risch GM, Robichaux M, Sherry ST, Batzer MA, Stoneking M (2001) Alu insertion polymorphisms and the genetic structure of human populations from the Caucasus. Eur J Hum Genet 9:267–272PubMedCrossRefGoogle Scholar
  23. Nei M (1973) Analysis of gene diversity in subdivided populations. Proc Natl Acad Sci USA 70:3321–3323PubMedCrossRefGoogle Scholar
  24. Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New YorkGoogle Scholar
  25. Renfrew C (1987) Archaeology and language: the puzzle of Indo-European origins. Cape, LondonGoogle Scholar
  26. Romualdi C, Balding D, Nasidze IS, Risch G, Robichaux M, Sherry ST, Stoneking M, Batzer MA, Barbujani G (2002) Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms. Genome Res 12:602–612PubMedCrossRefGoogle Scholar
  27. Schneider S, Roessli D, Excoffier L (2000) Arlequin Ver 2000 A software for population genetics data analysis. Genetics and biometry laboratory. University of Geneva, SwitzerlandGoogle Scholar
  28. Sitnikova T, Rzhetsky A, Nei M (1995) Interior-branch and bootstrap tests of phylogenetic trees. Mol Biol Evol 12:319–333PubMedGoogle Scholar
  29. StatSoft (1995) STATISTICA for Windows [Computer program manual]. Tulsa, OKGoogle Scholar
  30. Stoneking M, Fontius JJ, Clifford SL, Soodyall H, Arcot SS, Saha N, Jenkins T, Tahir MA, Deininger PL, Batzer MA (1997) Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa. Genome Res 7:1061–1071PubMedGoogle Scholar
  31. Tishkoff SA, Kidd KK (2004) Implications of biogeography of human populations for ‘race’ and medicine. Nat Genet 36:21–27CrossRefGoogle Scholar
  32. Varsahr AM, Spitsyn VA, Bychkovskaya LS, Kravchuk OI (2001) To the research of the gene pool of the Gagauz population of Moldavia. Anthropol Anz 59:11–17PubMedGoogle Scholar
  33. Varsahr AM, Dubova NA, Kutuyev IA (2003) Serological researches in the south of Moldavia in connection with the problem of the ethnogeny of the Gagauzes, the Moldavians and the Bulgarians. Anthropol Anz 61:395–411PubMedGoogle Scholar
  34. Varsahr AM, Scheil H-G, Schmidt HD (2006) Blood group and serum protein polymorphisms in a population group of Moldavians. Anthropol Anz 64:51–58PubMedGoogle Scholar
  35. Velicanova MS (1975) Paleoanthropology of the Dniester–Pruth interfluvial (in Russian). Nauka, MoscowGoogle Scholar
  36. Xiao FX, Yang JF, Cassiman JJ, Decorte R (2002) Diversity at eight polymorphic Alu insertion loci in Chinese populations shows evidence for European admixture in an ethnic minority population from northwest China. Hum Biol 74:555–568PubMedCrossRefGoogle Scholar
  37. Zhivotovsky LA (1991) Population Biometrics (in Russian). Nauka, MoscowGoogle Scholar

Copyright information

© The Japan Society of Human Genetics and Springer 2007

Authors and Affiliations

  • Alexander Varzari
    • 1
    • 2
    • 6
    Email author
  • Wolfgang Stephan
    • 2
  • Vadim Stepanov
    • 7
  • Florina Raicu
    • 3
  • Radu Cojocaru
    • 4
  • Yuri Roschin
    • 5
  • Cristiana Glavce
    • 3
  • Valentin Dergachev
    • 6
  • Maria Spiridonova
    • 7
  • Horst D. Schmidt
    • 8
  • Elisabeth Weiss
    • 2
  1. 1.National Center of Reproductive Health and Medical GeneticsKishinevMoldova
  2. 2.BiocentreLudwigs-Maximilian University MunichPlanegg-MartinsriedGermany
  3. 3.Anthropological Research Centre “Francisc Rainer”Romanian AcademyBucharestRomania
  4. 4.National Scientific and Practical Centre for Preventive Medicine, Ministry of HealthKishinevMoldova
  5. 5.Medical Diagnostical Centre “Modus Vivendi”KishinevMoldova
  6. 6.Institute of Archaeology and EthnographyAcademy of Sciences of MoldovaKishinevMoldova
  7. 7.Research Institute of Medical GeneticsRussian Academy of Medical SciencesTomskRussia
  8. 8.Department of AnthropologyUniversity of UlmUlmGermany

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