The Basques: Review of population genetics and Mendelian disorders

被引：16
作者：
Bauduer, F [1 ]
Feingold, J
Lacombe, D
机构：
[1] Ctr Hosp Cote Basque, Dept Hematol, F-64100 Bayonne, France
[2] Univ Paris 07, Lab Biol Antropol, Paris, France
[3] Hop Pellegrin, Dept Clin Genet, F-33076 Bordeaux, France
来源：
HUMAN BIOLOGY | 2005年 / 77卷 / 05期
关键词：
Basques; mitochondrial DNA haplogroups; Y-chromosome haplo-types; factor XI deficiency; blood groups; factor V leiden; inherited diseases; ABO blood groups; RH; kell; duffy; HLA; DF508 (Delta F508); cystic fibrosis; thrombosis; hereditary hemochromatosis;
D O I：
10.1353/hub.2006.0001
中图分类号：
Q98 [人类学];
学科分类号：
030303 ;
摘要：
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.
引用
收藏
页码：619 / 637
页数：19
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