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Detection of over 98% cystic fibrosis mutations in a Celtic population

Nature Genetics volume 1, pages 188–191 (1992)Cite this article

Abstract

We have conducted a large systematic study of 365 cystic fibrosis (CF) chromosomes in a Celtic population from Brittany, France, in which we have been able to identify more than 98% of the cystic fibrosis gene mutations. We detected 19 different CFTR mutations located in 9 exons. Eleven of these mutations have not been described previously and nine of them are presented in this study. The denaturing gradient gel electrophoresis strategy we have used, can be applied to other populations suggesting that population screening for CF on a large scale might be possible.

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References

  1. Boat, T.F., Welsh, M.J. & Beaudet, A.L. in The Metabolic Basis of Inherited Disease (eds Scriver, C.R., Beaudet, A.L, Sly, W.S. & Valle, D.) 2649–2860 (McGraw Hill, New-York, 1989).

    Google Scholar 

  2. Kerem, B.S. et al. Science 245, 1073–1080 (1989).

    Article  CAS  PubMed  Google Scholar 

  3. Riordan, J.R. et al. Science 245, 1066–1073 (1989).

    Article  CAS  PubMed  Google Scholar 

  4. Rommens, J.M. et al. Science 245, 1059–1064 (1989).

    Article  CAS  PubMed  Google Scholar 

  5. Hyde, S.C. et al. Nature 346, 362–365 (1990).

    Article  CAS  PubMed  Google Scholar 

  6. Bear, E.C. et al. Cell, 68, 809–818 (1992).

    Article  CAS  PubMed  Google Scholar 

  7. Dalemans, W. et al. Nature 354, 526–528 (1991).

    Article  CAS  PubMed  Google Scholar 

  8. Rommens, J.M. et al. Proc. natn. Acad. Sci. U.S.A. 88, 7500–7504 (1991).

    Article  CAS  Google Scholar 

  9. The Cystic Fibrosis Genetic Analysis Am. J. hum. Genet. 47, 354–359 (1990).

  10. Cutting, G.R. et al. Nature 346, 366–368 (1990).

    Article  CAS  PubMed  Google Scholar 

  11. Cutting, G.R. et al. New Engl. J. Med. 323, 1517–1522 (1990).

    Article  Google Scholar 

  12. Dean, M. et al. Cell 61, 863–870 (1990).

    Article  CAS  PubMed  Google Scholar 

  13. Gasparini, P. et al. Genomics 10, 193–200 (1991).

    Article  CAS  PubMed  Google Scholar 

  14. Guillermit, H., Fanen, P. & Free, C. Hum. Genet. 85, 450–453 (1990).

    Article  CAS  PubMed  Google Scholar 

  15. Highsmith, W.E. Jr. et al. Pediatr Pulmonol. 5 [Suppl]: 11A (1991).

  16. Ivaschenko, T.E. et al. Genomics 10, 298–299 (1991).

    Article  CAS  PubMed  Google Scholar 

  17. Kerem, B.S. et al. Proc. natn. Acad. Sci. U.S.A. 8447–8451 (1990).

  18. Kobayashi, K., Knowles, M.R., Boucher, R.C., OBrien, W.E. & Beaudet, A.L. Am. J. hum. Genet. 47, 611–615 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Osborne, L., Knight, R., Santis, G. & Hodson, M.A. Am. J. Genet. 48, 608–612 (1991).

    CAS  Google Scholar 

  20. Vidaud, M. et al. Hum. Genet. 85, 446–449 (1990).

    Article  CAS  PubMed  Google Scholar 

  21. White, M.B. Nature 344, 665–667 (1990).

    Article  CAS  PubMed  Google Scholar 

  22. Zielenski, J. Genomics 10, 229–235 (1991).

    Article  CAS  PubMed  Google Scholar 

  23. Schwarz, M. et al. (eds L.C. Tsui, G. Romeo, R. Gregor & S. Gorini) 417–422 (Plenum, NewYork, 1991).

  24. Bois, E. et al. Clinical Genet. 14, 73–76 (1978).

    Article  CAS  PubMed  Google Scholar 

  25. Férec, C., Guillermit, H. & Chaventré, A. Pathologie Biologie 39, 6:577–580 (1991).

    PubMed  Google Scholar 

  26. Lerman, L.S. & Silverstein, K. Methods Enzymol. 155, 482–501 (1987).

    Article  CAS  PubMed  Google Scholar 

  27. Myers, R.M., Maniatis, T. & Lerman, L.S. Methods Enzymol. 155, 501–527 (1987).

    Article  CAS  PubMed  Google Scholar 

  28. Sheffield, V.C., Cox, D.R., Lerman, S.L. & Myers, R.M. Proc. natn. Acad. Sci. U.S.A. 86, 232–236 (1989).

    Article  CAS  Google Scholar 

  29. Vidaud, M.A. et al. Proc. natn. Acad. Sci. U.S.A. 86, 1041–1045 (1989).

    Article  CAS  Google Scholar 

  30. Myers, R.M., Larin, Z. & Maniatis, T. Science 230, 1242–1246 (1985).

    Article  CAS  PubMed  Google Scholar 

  31. Cotton, R.G.H., Rodrigues, N.R. & Campbell, D.R. Proc. natn. Acad. Sci. U.S.A. 85, 4397–4401 (1988).

    Article  CAS  Google Scholar 

  32. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Proc. natn. Acad. Sci. U.S.A. 86, 2766–2770 (1989).

    Article  CAS  Google Scholar 

  33. Attree, O. et al. Genomics 4, 266–272 (1989).

    Article  CAS  PubMed  Google Scholar 

  34. Higuchi, M. et al. Proc. natn. Acad. Sci. U.S.A. 88, 8307–8311 (1991).

    Article  CAS  Google Scholar 

  35. Vidaud, M. et al. Hum. Genet. 85, 446–449 (1990).

    Article  CAS  PubMed  Google Scholar 

  36. Devoto, M. et al. Am. J. hum. Genet. 48, 1127–1132 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  37. Sheffield, V.C. et al. Am. J. hum. Genet. 49, 699–706 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  38. Rosatelli, M.C. et al. Am. J. hum. Genet. 50, 422–426 (1992).

    CAS  PubMed  PubMed Central  Google Scholar 

  39. Chu, C.S. et al. EMBO J. 10: 6, 1355–1363 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Gilbert, F. Am. J. hum. Genet. 46, 394–395 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  41. Roberts, L. Science 247, 1296–1297 (1990).

    Article  CAS  PubMed  Google Scholar 

  42. Beaudet, A.L. Am. J. hum. Genet. 47, 603–605 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  43. Caskey, C.T., Beaudet, A.L. & Cavalli-Sforza, L.L. Am. J. hum. Genet. 46, 393 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  44. Super, M., Schwarz, M.J. & Sardharwalla, I.B. Nature 344, 113–114 (1989).

    Article  Google Scholar 

  45. Brock, D.J.H. Am. J. hum. Genet. 47, 164–165 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  46. Watson, E.K. et al. BMJ 303, 504–507 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Brock, D.J.H. et al. Pediat Pulmonol. (6) 59, 239 (1991).

    Google Scholar 

  48. Ten kate, L.P. Am. J. hum. Genet. 47, 359–361 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  49. Shoshani, T. et al. Pediatric Pulmonology, 1991 North American Cystic Fibrosis Conference, 74, 242–243 (1991).

  50. Super, M. & Schwarz, M.J. Eur. J. Pediatr. 151, 108–111 (1992).

    Article  CAS  PubMed  Google Scholar 

  51. Saiki, R.K., Gefland, D.H. & Stoffel, S. Science 239, 487–491 (1988).

    Article  CAS  PubMed  Google Scholar 

  52. Gyllensten, U.B. & Erlich, H.A. Proc. natn. Acad. Sci. U.S.A. 85, 7652–7656 (1988).

    Article  CAS  Google Scholar 

  53. Sanger, F., Nicklen, S. & Coulson, A.R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, BP 454, 29275, BREST Cédex, France

    C. Férec, M.P. Audrezet, B. Mercier, H. Guillermit, P. Moullier, I. Quere & C. Verlingue

Authors
  1. C. Férec
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  2. M.P. Audrezet
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  3. B. Mercier
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  4. H. Guillermit
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  5. P. Moullier
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  6. I. Quere
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  7. C. Verlingue
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Férec, C., Audrezet, M., Mercier, B. et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1, 188–191 (1992). https://doi.org/10.1038/ng0692-188

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  • DOI: https://doi.org/10.1038/ng0692-188

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