Autosomal short tandem repeat genetic variation of the Basques in Spain

Department of Family Medicine, Research Division, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.
Croatian Medical Journal (Impact Factor: 1.31). 06/2011; 52(3):372-83. DOI: 10.3325/cmj.2011.52.372
Source: PubMed


To examine population genetic structure and hypotheses of the origin of the modern Basque population in Spain using autosomal short tandem repeat (STR) data from individuals living in 27 mountain villages in the provinces of Alava, Vizcaya, Guipuzcoa, and Navarre, by comparing Basque autosomal STR variation with that of neighboring populations in Europe, as well as proposed ancestral populations in North Africa and the Caucasus.
Allele frequencies for 9 autosomal STR loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA, and vWA) and several population genetic parameters were determined for the 4 provinces in the Basque region of Spain (n=377). Heterozygosity within the Basque population was measured using a locus-by-locus analysis of molecular variance. Relationships between the Basques and other populations were examined using a multidimensional scaling (MDS) plot of Shriver's DSW distance matrix.
Heterozygosity levels in the Basque provinces were on the low end of the European distribution (0.805-0.812). The MDS plot of genetic distances revealed that the Basques differed from both the Caucasian and North African populations with respect to autosomal STR variation.
Autosomal STR analysis does not support the hypotheses of a recent common ancestor between the Basques and populations either from the Caucasus or North Africa.

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    • "The Vizcaya Province sample (68 unrelated volunteers) revealed, on the basis of 13 autosomal STR loci, that the Basques are outliers relative to neighboring Spanish and the more distant North African populations. Young et al. characterized a total of 404 DNA samples for nine autosomal STR loci collected from rural villages and towns of four Basque Provinces [24]. Multidimensional scaling based on Shriver’s Dsw distance matrix did not support the hypothesis of a recent common ancestry between the Basques and populations from the Caucasus or North Africa [25]. "
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    ABSTRACT: In 1985, Sir Alec Jeffreys developed the variable-number tandem repeat method used to identify individuals and giving researchers the first DNA fingerprints. These initial methods were used in anthropological genetics, a field that uses a comparative approach to answer questions about human history, including the discernment of the origin of Native American populations and the discrimination of clan affiliation from individuals in Siberia. The technological and methodological advances since this time have led to the use of many more markers, including restriction fragment length polymorphisms, Y chromosomal and autosomal short tandem repeats, single nucleotide polymorphisms, and direct sequencing not only to identify individuals, but to examine frequencies and distributions of markers (or "prints") of entire populations. In the field of anthropological genetics these markers have been used to reconstruct evolutionary history and answer questions concerning human origins and diaspora, migration, and the effects of admixture and adaptation to different environments, as well as susceptibility and resistance to disease. This review discusses the evolution of DNA markers since their application by Sir Alec Jeffreys and their applications in anthropological genetics.
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