The origin of the major cystic fibrosis mutation (ΔF508) in European populations

@article{Morral1994TheOO,
  title={The origin of the major cystic fibrosis mutation (ΔF508) in European populations},
  author={N. Morral and J. Bertranpetit and X. Estivill and V. Nunes and T. Casals and J. Gim{\'e}nez and A. Reis and R. Varon-Mateeva and M. Macek and L. Kalaydjieva and D. Angelicheva and R. Dancheva and G. Romeo and M. Russo and S. Garnerone and G. Restagno and M. Ferrari and C. Magnani and M. Claustres and M. Desgeorges and M. Schwartz and M. Schwarz and B. Dallapiccola and G. Novelli and C. F{\'e}rec and M. Arce and M. Nemeti and J. Kere and M. Anvret and N. Dahl and L. K{\'a}dasi},
  journal={Nature Genetics},
  year={1994},
  volume={7},
  pages={169-175}
}
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… Expand
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References

SHOWING 1-10 OF 25 REFERENCES
Identification of the cystic fibrosis gene: genetic analysis.
  • 2,793
  • PDF
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium
  • L. Tsui
  • Biology, Medicine
  • Human mutation
  • 1992
  • 161
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.
  • 32
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.
  • 93
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.
  • 105
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.
  • 141
A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.
  • 64
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
  • 78
  • PDF
Identification of the cystic fibrosis gene: Chromosome walking and jumping
  • 2,266
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
  • 3,700
...
1
2
3
...