Abstract
ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of ΔF508 chromosomes in Europe. Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF508 in Europe.
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Morral, N., Bertranpetit, J., Estivill, X. et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7, 169–175 (1994). https://doi.org/10.1038/ng0694-169
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DOI: https://doi.org/10.1038/ng0694-169
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