Abstract

BackgroundThe most recent Alu insertions reveal different degrees of polymorphism in human populations, and a series of characteristics that make them particularly suitable genetic markers for Human Biology studies. This has led these polymorphisms to be used to analyse the origin and phylogenetic relationships between contemporary human groups. This study analyses twelve Alu sequences in a sample of 216 individuals from the autochthonous population of Galicia (NW Spain), with the aim of studying their genetic structure and phylogenetic position with respect to the populations of Western and Central Europe and North Africa, research that is of special interest in revealing European population dynamics, given the peculiarities of the Galician population due to its geographical situation in western Europe, and its historical vicissitudes.ResultsThe insertion frequencies of eleven of the Alu elements analysed were within the variability range of European populations, while Yb8NBC125 proved to be the lowest so far recorded to date in Europe.Taking the twelve polymorphisms into account, the GD value for the Galician population was 0.268. The comparative analyses carried out using the MDS, NJ and AMOVA methods reveal the existence of spatial heterogeneity, and identify three population groups that correspond to the geographic areas of Western-Central Europe, Eastern Mediterranean Europe and North Africa. Galicia is shown to be included in the Western-Central European cluster, together with other Spanish populations. When only considering populations from Mediterranean Europe, the Galician population revealed a degree of genetic flow similar to that of the majority of the populations from this geographic area.ConclusionThe results of this study reveal that the Galician population, despite its geographic situation in the western edge of the European continent, occupies an intermediate position in relation to other European populations in general, and Iberian populations in particular. This confirms the important role that migratory movements have had in the European gene pool, at least since Neolithic times. In turn, the MDS and NJ analyses place Galicia within the group comprised of Western-Central European populations, which is justified by the influence of Germanic peoples on the Galician population during the Middle Ages. However, it should also be noted that some of the markers analysed have a certain degree of differentiation, possibly due to the region's position as a 'cul-de-sac' in terms of Iberian population dynamics.

Highlights

  • The most recent Alu insertions reveal different degrees of polymorphism in human populations, and a series of characteristics that make them suitable genetic markers for Human Biology studies

  • The results of this study reveal that the Galician population, despite its geographic situation in the western edge of the European continent, occupies an intermediate position in relation to other European populations in general, and Iberian populations in particular

  • The multidimensional scaling (MDS) and neighbour-joining method (NJ) analyses place Galicia within the group comprised of Western-Central European populations, which is justified by the influence of Germanic peoples on the Galician population during the Middle Ages

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Summary

Introduction

The most recent Alu insertions reveal different degrees of polymorphism in human populations, and a series of characteristics that make them suitable genetic markers for Human Biology studies. The most recent Alu insertions have a different degree of polymorphism in human populations [2,9], which makes them suitable genetic markers to be used in Human Biology studies They are a type of polymorphism whose ancestral state is known, the alleles are identical by descent, as they are originated by a unique event, and they remain stable in phylogenetic terms, as well as being selectively neutral in the long term [10]. These characteristics have served to promote the use of the polymorphisms of Alu insertions as a means of analysing the origin and phylogenetic relations of modern human groups [11,12]. Interest in their use has increased in recent years due to their application in the identification of individual geographic origins [13,14,15]

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