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. P. 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}r{\'e}c and M. D. Arce and M. Nemeti and J. Kere and M. Anvret and N. Dahl and Ľ. K{\'a}da{\vs}i}, 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… CONTINUE READING
Paper Mentions
300 Citations
Genetic and geographical variability in cystic fibrosis: evolutionary considerations.
- Biology, Medicine
- Ciba Foundation symposium
- 1996
- 61
The cradle of the deltaF508 mutation.
- Medicine
- Journal of Ayub Medical College, Abbottabad : JAMC
- 2008
- 9
A hypothesis regarding the origin and spread of the cystic fibrosis mutation deltaF508.
- Biology, Medicine
- QJM : monthly journal of the Association of Physicians
- 2000
- 17
- PDF
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
- Biology, Medicine
- American journal of medical genetics
- 2002
- 56
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
- Biology, Medicine
- European Journal of Human Genetics
- 2018
- 13
- PDF
Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ΔF508 Mutation and the KM19 and XV2C Haplotypes
- Biology, Medicine
- Human biology
- 2007
- 1
- PDF
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
- Biology, Medicine
- Annals of human genetics
- 1997
- 61
- Highly Influenced
- PDF
A haplotype framework for cystic fibrosis mutations in Iran.
- Biology, Medicine
- The Journal of molecular diagnostics : JMD
- 2006
- 43
XV-2c and KM.19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations.
- Biology, Medicine
- Biological research
- 2007
- 4
- PDF
References
SHOWING 1-10 OF 25 REFERENCES
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium
- Biology, Medicine
- Human mutation
- 1992
- 161
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.
- Biology, Medicine
- American journal of human genetics
- 1992
- 32
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.
- Biology, Medicine
- Human molecular genetics
- 1993
- 92
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.
- Biology, Medicine
- Genomics
- 1991
- 105
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.
- Biology, Medicine
- Genomics
- 1987
- 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.
- Biology, Medicine
- American journal of human genetics
- 1991
- 64
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Biology, Medicine
- American journal of human genetics
- 1991
- 78
- PDF