The Basque population is widely known as a genetic relict, consisting of a genetically and linguistically distinct population, a paradigm of the complexity of human evolution. I propose that the Founder’s Effect played a large role in genetic singularity, and therefore the high frequency of many of these mutations and disorders were caused by a high occurrence of inbreeding and a lack of admixture. I hypothesize that the long-lasting Paleolithic mode of life, especially regarding nutrition and microbial exposure, was at the origin of this selective pressure within this population of ancient local ancestry. Within this population, one can find extreme frequencies in some polymorphisms interfering with microbial susceptibility, hemostasis, and iron metabolism. From these findings, I propose the role of possible selective effects acting in addition to genetic drift.
The Basques are considered the remnants of pre-Neolithic populations from Western Europe. Basques have the highest European proportion of Paleolithic genetic heritage and exhibit the lowest Neolithic content. Through the ages they seem to have maintained a high level of endogamy, probably because of their specific cultural characteristics. Because of this longtime isolated local evolution, the major role of drift has been underlined by many scholars to explain the marked genetic distinctiveness of the Basques.
The Basques demonstrate peculiarities regarding the distribution of various inherited diseases (i.e., unusual frequencies or founding effects). They showed substantial genetic differentiation within the European context, probably as a result of the impact of random genetic drift and high inbreeding levels for extended periods of isolation even from adjacent populati...
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... infections conferred by heterozygosity is the most likely reason (balanced polymorphism). Drift alone could explain the diversity of the DF508 mutation within the mutant class. The high frequency of this very old "killer" allele suggests the existence of a selective advantage for carriers (balancing selection).
On another note, there are a few researchers, Hafid Laayouni , Francesc Calafell and Jaume Bertranpetit, who believe
From many studies, researchers can confirm the important role of drift in the endogamous human group, the Basques, and can report some disorders related to founder effects. Most important, the peculiar distribution of various polymorphisms, such as blood group O, factor V Leiden, DF508, C282Y, and CCR5 D32 mutations, which are involved in resistance to infection, hemostasis, or iron conservation, could be interpreted as an adaptive profile.
A Short History of the Basque Country Archaeological and ethnographic findings indicate that Basque [people] evolved from Cro-Magnon [...] in this area over a period dating from about 40,000 years ago until distinct features were acquired approximately 7,000 years ago. Two thousand years later the sheep, not native to these lands, was introduced and horse and cattle farming came into being, as shown by Adolf Staffe. These circumstances made it necessary for the people to travel periodically
mi. Madrid is the capital and largest city. Population The Spanish people are essentially a mixture of the indigenous peoples of the Iberian Peninsula with the successive peoples who conquered the peninsula and occupied it for extended periods. These added ethnologic elements include the Romans, a Mediterranean people, and the Suevi, Vandals, and Visigoths, Teutonic peoples. Semitic elements are also present. Population Characteristics The population of Spain at the 1991 census was 38,872,268.
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