European Journal of Human Genetics
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January 2001, Volume 9, Number 1, Pages 27-33
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Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region
Mihaela Stefan1, Gheorge Stefanescu2, Lucian Gavrila1, Luciano Terrenato3, Mark A Jobling4, Patrizia Malaspina3 and Andrea Novelletto3,5

1Genetics Department, University of Bucharest

2Institutul Cercetari Biologice, Iasi, Romania

3Department of Biology, University of Rome 'Tor Vergata&rsquo, Italy

4Department of Genetics, University of Leicester, UK

5Department of Cell Biology, University of Calabria, Italy

Correspondence to: DrPatrizia Malaspina , Department of Biology, University of Rome 'Tor Vergata', Via della Ricerca Scientifica, 00133 Rome, Italy. Tel: +39 06 72594321; Fax: +39 06 2023500; E-mail:


Nine single nucleotide (SNP) or indel binary polymorphisms were used to determine the frequencies and phylogenetic relationships of 12 Y chromosomal haplogroups in 289 males from Romania and the Republic of Moldova. Our data indicated a low but not null rate of the homoplasic appearance of the DYZ3 (-) allelic state. All other markers confirmed the previously proposed phylogeny. Based on the affinities between populations in terms of haplogroup frequencies, this work identified the geographical region of the Carpathians as a break point in the gene geography of Eastern Central Europe, providing a finer definition of one of the possible sharp genetic changes between Western and Eastern Europe. European Journal of Human Genetics (2001) 9, 27-33.


Y chromosome; population structuring; peopling of Europe

Received 10 May 2000; revised 29 August 2000; accepted 13 September 2000
January 2001, Volume 9, Number 1, Pages 27-33
Table of contents    Previous  Abstract  Next   Article  PDF