Hum Biol. 1998 Aug;70(4):667-98.

Immunoglobulin allotypes (GM and KM) in Basques from Spain: approach to the origin of the Basque population.

Calderon R, Vidales C, Pena JA, Perez-Miranda A, Dugoujon JM.

Departamento de Biologia Animal y Genetica, Facultad de Ciencias, Universidad del Pais Vasco, Bilbao, Spain.

GM and KM immunoglobulin (Ig) allotypes have been tested in 310 autochthonous Basques from the three subpopulations of Vizcaya, Guipuzcoa, and Alava, Spain. They are compared with allotypes occurring in autochthonous French Basques, some Pyrenean subpopulations in France, and European populations. The analysis suggests that the Basque subpopulations show noticeable genetic distances between them and with other European populations. The genetic similarity between Basques and European populations is greater in the Basques from France than in the Basques from Spain. The genetic distances between Basque subpopulations in Spain fit well with the different historical levels of the spatial implantation of the Basque language. Guipuzcoa, the Basque province with the highest number of Basque-speaking people, shows the most genetic distinctiveness. The main underlying cause of this spatial genetic pattern seems to be admixture with surrounding populations. Our results do not support the hypothesis that Basques are a relict population of ancient Europeans. They might be a consequence of the colonization of the Basque area by a long-distance migrating group, probably a small Neolithic North Caucasian population that introduced agriculture in the region. They experienced early, rapid demographic growth, and they did not breed with the few hunter-gatherers wandering throughout the area. The North Caucasian migrants could have admixed with North Asian groups dating from many centuries before. Furthermore, Basques present polymorphic frequencies of a common African haplotype, suggesting that they have not been completely isolated from populations of Africa. However, another focus of the African haplotype has been detected in Central Asia, and the Basque frequencies alternatively might be due to North Asian groups.