European Journal of Human Genetics
SEARCH     advanced search my account e-alerts subscribe register
Journal home
Advance online publication
Current issue
Press releases
For authors
For referees
Contact editorial office
About the journal
About the society
For librarians
Contact Springer Nature
Customer services
Site features
NPG Subject areas
Access material from all our publications in your subject area:
Biotechnology Biotechnology
Cancer Cancer
Chemistry Chemistry
Dentistry Dentistry
Development Development
Drug Discovery Drug Discovery
Earth Sciences Earth Sciences
Evolution & Ecology Evolution & Ecology
Genetics Genetics
Immunology Immunology
Materials Materials Science
Medical Research Medical Research
Microbiology Microbiology
Molecular Cell Biology Molecular Cell Biology
Neuroscience Neuroscience
Pharmacology Pharmacology
Physics Physics
Browse all publications
May 2000, Volume 8, Number 5, Pages 339-346
Table of contents    Previous  Abstract  Next   Article  PDF
MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool
Ornella Semino1, Giuseppe Passarino1,2, Lluís Quintana-Murci1, Aiping Liu1, Judit Béres3, Andreas Czeizel3 and A Silvana Santachiara-Benerecetti1

1Dipartimento di Genetica e Microbiologia 'A Buzzati Traverso', Università di Pavia, Italy

2Dipartimento di Biologia Cellulare, Università della Calabria, Arcavacata di Rende, Italy

3Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary

Correspondence to: ProfessorA Silvana Santachiara-Benerecetti , Dipartimento di Genetica e Microbiologia 'A Buzzati Traverso', Università di Pavia, Via Abbiategrasso, 207, 27100 Pavia, Italy. Tel: +39 0382 505542/43; Fax: +39 0382 528496; E-mail:


Magyars imposed their language on Hungarians but seem not to have affected their genetic structure. To better investigate this point, we analysed some mtDNA and Y chromosome polymorphisms in a sample of the Hungarian Palóc who, for historical reasons, could have retained genetic traces of Magyars more than other groups. In addition, we examined a mixed sample from Budapest. About 100 individuals were tested for the markers defining all the European and Asian mtDNA haplogroups and about 50 individuals for some Y chromosome markers, namely the 12f2 and 49a,f/TaqI RFLPs, the YAP insertion, the microsatellites YCAIIa, YCAIIb, DYS19 and the Asian 50f2/C deletion. In the mtDNA analysis only two subjects belonged to the Asian B and M haplogroups. The Y chromosome analyses showed: that the Palóc differed from the Budapest sample by the absence of YAP+ allele and by the DYS19 allele distribution; that the proto-European 49a,f Ht 15 and the neolithic 12f2-8Kb were rather uncommon in both groups; that there is a high prevalence of the 49a,f Ht 11 and the YCAII a5-b1; and that the Asian 50f2/C deletion is absent. These results suggest that the influence of Magyars on the Hungarian gene pool has been very low through both females and males and the Hungarian language could be an example of cultural dominance. Alternative explanations are discussed. An expansion centred on YAP-; 49a,f Ht 11 is revealed by the median network based on compound haplotypes. 49a,f Ht 11 could represent either a paleolithic marker of eastern Europe which underwent expansion after the last glacial period, or a marker of the more recent spread of the Yamnaia culture from southern Ukraine. European Journal of Human Genetics (2000) 8, 339-346.


Hungary; Palóc; mtDNA variations; Y chromosome polymorphisms

Received 23 April 1999; revised 5 January 2000; accepted 7 January 2000
May 2000, Volume 8, Number 5, Pages 339-346
Table of contents    Previous  Abstract  Next   Article  PDF