Cystic fibrosis in the Basque Country: High frequency of mutation ΔF508 in patients of Basque origin

T. Casals, C. Vázquez, C. Lázaro, E. Girbau, F. J. Giménez, Xavier P. Estivill

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The Basque population is one of the oldest populations of Europe. It has been suggested that the Basques arose from a population established in western Europe during the late Paleolithic Age. The Basque language (Euskera) is a supposedly pre-Indo-European language that originates from the first settlers of Europe. The variable distribution of the major cystic fibrosis (CF) mutation (ΔF508 deletion) in Europe, with higher frequencies of the mutation in northern Europe and lower frequencies in southern Europe, has suggested that the ΔF508 mutation was spread by early farmers migrating from the Middle East during the Neolithic period. We have studied 45 CF families from the Basque Country, where the incidence of CF is approximately 1/4,500. The birthplaces of the parents and grandparents have been traced and are distributed according to their origin as Basque or Mixed Basque. The frequency of the ΔF508 mutation in the chromosomes of Basque origin is 87%, compared with 58% in those of Mixed Basque origin. The analysis of haplotypes, both with markers closely linked to the CF gene and with intragenic markers, suggests that the ΔF508 mutation was not spread by the Indo-European invasions but was already present in Europe more than 10,000 years ago, during the Paleolithic period.

Original languageEnglish
Pages (from-to)404-410
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number2
Publication statusPublished - Feb 1992
Externally publishedYes


ASJC Scopus subject areas

  • Genetics

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