A. Salas et al., MTDNA ANALYSIS OF THE GALICIAN POPULATION - A GENETIC EDGE OF EUROPEAN VARIATION, European journal of human genetics, 6(4), 1998, pp. 365-375
Analysis of mitochondrial DNA (mtDNA) variation has become a useful to
ol for human population studies, We analysed the first hypervariable r
egion of mitochondrial DNA control region (position 16024-16383) in 92
unrelated individuals from Galicia (Spain), a relatively isolated Eur
opean population at the westernmost continental edge. Fifty different
sequences defined by 56 variable positions were found, The frequency o
f the reference sequence reaches in Galicians its maximum value in Eur
ope, Moreover, several genetic indexes confirm the low variability of
our sample in comparison to data from 11 European and Middle Eastern p
opulations, A parsimony tree of the sequences reveals a high simplicit
y of the tree, with few and small well defined clusters. These results
place Galicians on the genetic edge of the European variation, bringi
ng together all the traits of a cul-de-sac population with a striking
similarity to the Basque population. The present results are fully com
patible with a population expansion model in Europe during the Upper P
aleolithic 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.