Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

@article{Bobadilla2002CysticFA,
  title={Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening},
  author={Joseph Louis Bobadilla and Milan Macek and Jason P. Fine and Philip M. Farrell},
  journal={Human Mutation},
  year={2002},
  volume={19}
}
Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated with cystic fibrosis (CF). We determined the distribution of CFTR mutations in as many regions throughout the world as possible in an effort designed to: 1) increase our… 
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Single strand conformation polymorphism analysis of exons 3, 7, 10, 11 and 17b of the CFTR gene was performed in patients in whom no mutation could be identified on one or both CFTR genes, and only three mutations were found.
The cradle of the deltaF508 mutation.
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Findings suggest that this mutation was not spread by Europeans but by a group that is speculated to have originated in the Middle East or a more eastern region in Asia (most likely subcontinent).
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