Original Article

Journal of Human Genetics (2011) 56, 784–796; doi:10.1038/jhg.2011.103; published online 15 September 2011

HVS-I polymorphism screening of ancient human mitochondrial DNA provides evidence for N9a discontinuity and East Asian haplogroups in the Neolithic Hungary

Zsuzsanna Guba1,2, Éva Hadadi1, Ágnes Major2, Tünde Furka3, Emese Juhász4, Judit Koós5, Károly Nagy4 and Tamás Zeke1,2

  1. 1Laboratory of Molecular Anthropology, Hungarian Natural History Museum, Budapest, Hungary
  2. 2Laboratory of Molecular Taxonomy, Hungarian Natural History Museum, Budapest, Hungary
  3. 3Department of Physical Anthropology, University of Debrecen, Debrecen, Hungary
  4. 4SOTE Department of Medical Microbiology, Budapest, Hungary
  5. 5Hermann Ottó Museum, Miskolc, Hungary

Correspondence: Dr Z Guba, Laboratory of Molecular Anthropology, Hungarian Natural History Museum, Budapest, Ludovika2 H-1083, Hungary. E-mail: gubazsuzs@yahoo.com

Received 2 September 2010; Revised 19 July 2011; Accepted 26 July 2011; Published online 15 September 2011.



Analysis of mitochondrial mutations in the HVS-I region is an effective method for ancient human populational studies. Discontinuous haplotype data between the first farmers and contemporary Europeans has been described before. Our contribution is based on a survey initiated on the Neolithic skeletons from Hungarian archaeological sites in the Alföld. This Lowland, the Hungarian Plain, is well excavated as an important region for spread of Neolithic culture from Near East and Balkans toward Central and Western Europe, started circa 8000 years ago. HVS-I sequences from nt15977 to nt16430 of 11 such specimens with sufficient mitochondrial DNA preservation among an extended Neolithic collection were analysed for polymorphisms, identifying 23 different ones. After assigning all single-nucleotide polymorphisms, a novel, N9a, N1a, C5, D1/G1a, M/R24 haplogroups were determined. On mitochondrial control mutations at nt16257 and nt16261, polymorphic PCRs were carried out to assess their distribution in remains. Neolithic data set was compared with contemporary Vác samples and references, resulting in higher frequency of N9a in Alföld as a remarkable genetic discontinuity. Our investigation is the first to study mutations form Neolithic of Hungary, resulting in an outcome of Far Eastern haplogroups in the Carpathian Basin. It is worth further investigation as a non-descendant theory, instead of a continuous population history, supporting genetic gaps between ancient and recent human populations.


ancient DNA; mitochondrial control mutation; N9a haplogroup; neolithisation; polymorphic PCR