International Journal of Human Diversity and Evolution
Coverage: 1923-1941 (Vols. I-XIX) & 1962-2023 (Vols. 1-61)
ISSN 0323-1119 (Print)
ISSN 2570-9127 (Online)
Journal Impact Factor 0.2
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'Guba Z, Pap I, Zeke T, 2009: Ancient mitochondrial DNA polymorphisms from human Neolithic sites in the Carpathian Basin. Anthropologie (Brno) 47, 1-2: 57-67'.
The Alföld Region of Hungary played a key role in the spread of Neolithic in Europe as being the main route towards Central and Northern Europe. From local excavations, nearly 500 skeletons have been uncovered so far from the Early-Middle Neolithic periods, providing an excellent base for the study of the first Central European farmers. Ancient DNA analysis of these human remains was needed to give reliable data on their genetic diversity and origin, because archaeological data were only accompanied by morphometrical investigations prior to our studies. A primer walking strategy was used to map through the hypervariable region of the human mitochondrial DNA to identify any specific polymorphism containing sequence in the 7,000-8,000-year-old Neolithic remains. Amplifiable fragments were isolated and their sequences were determined via direct sequencing of PCR products of interest. The sizes of the amplification products were found from 80 to 455 bp, but this efficiency was only achievable when we applied a DNA purification step in the prePCR protocol. Direct DNA sequence analysis of PCR products of interest showed that HVR of the mitochondrial DNA contain point mutations just specifically bound to the 8,000-year-old aDNA, and the distinctive mutation patterns of nt16257 and nt16261 were repeatedly found, which is characteristic of the N9a mitochondrial haplogroup. This mtDNA lineage is rare among contemporary Europeans and more common in the East Asian samples, while according to our aDNA data, no polymorphisms of N haplogroups were found in more recent sites dating from the Middle Ages up to the present. These data are in accordance with the knowledge of a heterogeneous genetic pattern of European Neolithic, but with local differences and novel genetic data. These polymorphisms were followed up throughout the Neolithic remains collection of the Hungarian Natural History Museum, and checked with amplification experiments using polymorphism specific primers. This analysis will be extended onto other Neolithic sites in Europe, or even outside Europe in order to determine the mtDNA polymorphism pattern of Neolithic people.
Neolithic - Ancient mitochondrial DNA - PCR - Single nucleotide polymorphism

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