title: The Basques: review of population genetics and Mendelian disorders.
abstract: The Basques live at the western end of the Pyrenees along the Atlantic Ocean and are thought to represent the descendants of a pre-Neolithic people. They demonstrate marked specificities regarding language and genetics among the European populations. We review the published data on the population genetics and Mendelian disorders of the Basques. An atypical distribution in some blood group polymorphisms (ABO, Rhesus, and Duffy) was first found in this population. Subsequently, additional characteristics have been described with regard to proteins (enzymes and immunoglobulins) and the HLA system. The advent of molecular biology methods in the 1990s allowed further insights into Basque population genetics based mainly on Y-chromosome and mitochondrial DNA. In addition, the Basques demonstrate peculiarities regarding the distribution of various inherited diseases (i.e., unusual frequencies or founding effects). Taken together, these data support the idea of an ancient and still relatively unmixed population subjected to genetic drift.
authors.affiliation: Department of Hematology, Centre Hospitalier de la Cite Basque, 64100 Bayonne, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Bauduer
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D001789:Blood Group Antigens / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic; D013030:Spain
chemical_list: D001789:Blood Group Antigens; D004272:DNA, Mitochondrial; D005819:Genetic Markers; D006680:HLA Antigens