title: Genetic polymorphisms in autochthonous Basques from northern Navarre.
abstract: This survey reports primary results of classical allele frequencies on ten protein loci in a Basque population sample from northern Navarre, the less known from an anthropological and genetic point of view than the populations of the other Basque territories of Spain. Since ancient times this has been a zone of Basque population settlement, and the Basque language (Euskera) still remains deeply rooted among its autochthonous population. A total of 122 blood samples from unrelated northern Navarrese with autochthonous ascendants to the third generation were typed for GC, HP, PI, TF, ACP1, AK1, CA2, ESD, PGD and PGM1 genetic systems. Basque surnames and birthplaces were the criteria used to define family origins. Genetic structure was analyzed on different population hierarchical levels. Northern Navarre seems to be the most genetically deviated area in comparison with other Basque groups. The highest level of differentiation is observed between Navarrese and Alava Basques whereas Guipúzcoa province, the territory adjacent to northern Navarre, presents the lowest genetic distance from the study area. Northern Navarrese show some distinguishing genetic characteristics in relation to other Basque relative samples, which include high frequencies for PI*M1 and TF*C1 and low levels of PGD*C and PGM1*2 alleles. When the genetic data reported here are analyzed jointly with GM allotypes frequencies, the results significantly reinforce the relative position of Navarrese Basques as well as the topology of the Basque cluster on genetic maps. The analysis of relationships among the genetic structures of Basque population samples leads us to ask ourselves which of them fits in best with the ancient Basque population. Classical geographers placed the tribe of the Vascones in the geographical region currently known as Navarre, so extant Navarrese Basques might be considered firm candidates to denote the anthropological and genomic distinctiveness of the ancient Basques.
authors.affiliation: Departamento de Zoología y Antropología Física, Universidad Complutense de Madrid, Madrid, Spain. rcalfer@bio.ucm.es
authors.forename: Rosario
authors.initials: R
authors.lastname: Calderón
authors.forename: Ana M
authors.initials: AM
authors.lastname: Pérez-Miranda
authors.forename: Maria
authors.initials: M
authors.lastname: Fuciarelli
authors.forename: Giusepina
authors.initials: G
authors.lastname: Scano
authors.forename: Mónica
authors.initials: M
authors.lastname: Carrión
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Alfonso-Sánchez
authors.forename: José A
authors.initials: JA
authors.lastname: Peña
authors.forename: Beatriz
authors.initials: B
authors.lastname: Ambrosio
authors.forename: GianFranco
authors.initials: G
authors.lastname: De Stefano
mesh_terms: D001798:Blood Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000706:statistics & numerical data; D040641:Quantitative Trait Loci / Q000235:genetics*; D013030:Spain / Q000453:epidemiology; D044465:White People / Q000235:genetics*
chemical_list: D001798:Blood Proteins; D005819:Genetic Markers