NFZ1MZ S33mtDNA analysis of the Galician population: a genetic edge of European variation (Reprinted from Journal of Human Genetics, Vol 6, Pg 365-375 1998)

Analysis of mitochondrial DNA (mtDNA) variation has become a useful tool for human population studies. We analysed the first hypervariable region of mitochondrial DNA control region (position 16024-16383) in 92 unrelated individuals from Galicia (Spain), a relatively isolated European population at the westernmost continental edge. Fifty different sequences defined by 56 variable positions were found. The frequency of the reference sequence reaches in Galicians its maximum value in Europe. Moreover, several genetic indexes confirm the low variability of our sample in comparison to data from 11 European and Middle Eastern populations. A parsimony tree of the sequences reveals a high simplicity of the tree, with few and small well defined clusters. These results place Galicians on the genetic edge of the European variation, bringing together all the traits of a cul-de-sac population with a striking similarity to the Basque population. The present results are fully compatible with a population expansion model in Europe during the Upper Paleolithic age. The genetic evidence revealed by the analysis of mtDNA shows the Galician population at the edge of a demographic expansion towards Europe from the Middle East.