Abstract
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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Salas, A., Comas, D., Lareu, M. et al. mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet 6, 365–375 (1998). https://doi.org/10.1038/sj.ejhg.5200202
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200202
Keywords
This article is cited by
-
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Scientific Reports (2019)
-
Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility
Journal of Human Genetics (2017)
-
Human maternal heritage in Andalusia (Spain): its composition reveals high internal complexity and distinctive influences of mtDNA haplogroups U6 and L in the western and eastern side of region
BMC Genetics (2014)
-
The Carpathian range represents a weak genetic barrier in South-East Europe
BMC Genetics (2014)
-
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population
Human Genome Variation (2014)