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.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
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).
Kerem, B.S. et al. Science 245, 1073–1080 (1989).
Riordan, J.R. et al. Science 245, 1066–1073 (1989).
Rommens, J.M. et al. Science 245, 1059–1064 (1989).
Hyde, S.C. et al. Nature 346, 362–365 (1990).
Bear, E.C. et al. Cell, 68, 809–818 (1992).
Dalemans, W. et al. Nature 354, 526–528 (1991).
Rommens, J.M. et al. Proc. natn. Acad. Sci. U.S.A. 88, 7500–7504 (1991).
The Cystic Fibrosis Genetic Analysis Am. J. hum. Genet. 47, 354–359 (1990).
Cutting, G.R. et al. Nature 346, 366–368 (1990).
Cutting, G.R. et al. New Engl. J. Med. 323, 1517–1522 (1990).
Dean, M. et al. Cell 61, 863–870 (1990).
Gasparini, P. et al. Genomics 10, 193–200 (1991).
Guillermit, H., Fanen, P. & Free, C. Hum. Genet. 85, 450–453 (1990).
Highsmith, W.E. Jr. et al. Pediatr Pulmonol. 5 [Suppl]: 11A (1991).
Ivaschenko, T.E. et al. Genomics 10, 298–299 (1991).
Kerem, B.S. et al. Proc. natn. Acad. Sci. U.S.A. 8447–8451 (1990).
Kobayashi, K., Knowles, M.R., Boucher, R.C., OBrien, W.E. & Beaudet, A.L. Am. J. hum. Genet. 47, 611–615 (1990).
Osborne, L., Knight, R., Santis, G. & Hodson, M.A. Am. J. Genet. 48, 608–612 (1991).
Vidaud, M. et al. Hum. Genet. 85, 446–449 (1990).
White, M.B. Nature 344, 665–667 (1990).
Zielenski, J. Genomics 10, 229–235 (1991).
Schwarz, M. et al. (eds L.C. Tsui, G. Romeo, R. Gregor & S. Gorini) 417–422 (Plenum, NewYork, 1991).
Bois, E. et al. Clinical Genet. 14, 73–76 (1978).
Férec, C., Guillermit, H. & Chaventré, A. Pathologie Biologie 39, 6:577–580 (1991).
Lerman, L.S. & Silverstein, K. Methods Enzymol. 155, 482–501 (1987).
Myers, R.M., Maniatis, T. & Lerman, L.S. Methods Enzymol. 155, 501–527 (1987).
Sheffield, V.C., Cox, D.R., Lerman, S.L. & Myers, R.M. Proc. natn. Acad. Sci. U.S.A. 86, 232–236 (1989).
Vidaud, M.A. et al. Proc. natn. Acad. Sci. U.S.A. 86, 1041–1045 (1989).
Myers, R.M., Larin, Z. & Maniatis, T. Science 230, 1242–1246 (1985).
Cotton, R.G.H., Rodrigues, N.R. & Campbell, D.R. Proc. natn. Acad. Sci. U.S.A. 85, 4397–4401 (1988).
Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Proc. natn. Acad. Sci. U.S.A. 86, 2766–2770 (1989).
Attree, O. et al. Genomics 4, 266–272 (1989).
Higuchi, M. et al. Proc. natn. Acad. Sci. U.S.A. 88, 8307–8311 (1991).
Vidaud, M. et al. Hum. Genet. 85, 446–449 (1990).
Devoto, M. et al. Am. J. hum. Genet. 48, 1127–1132 (1991).
Sheffield, V.C. et al. Am. J. hum. Genet. 49, 699–706 (1991).
Rosatelli, M.C. et al. Am. J. hum. Genet. 50, 422–426 (1992).
Chu, C.S. et al. EMBO J. 10: 6, 1355–1363 (1991).
Gilbert, F. Am. J. hum. Genet. 46, 394–395 (1990).
Roberts, L. Science 247, 1296–1297 (1990).
Beaudet, A.L. Am. J. hum. Genet. 47, 603–605 (1990).
Caskey, C.T., Beaudet, A.L. & Cavalli-Sforza, L.L. Am. J. hum. Genet. 46, 393 (1990).
Super, M., Schwarz, M.J. & Sardharwalla, I.B. Nature 344, 113–114 (1989).
Brock, D.J.H. Am. J. hum. Genet. 47, 164–165 (1990).
Watson, E.K. et al. BMJ 303, 504–507 (1991).
Brock, D.J.H. et al. Pediat Pulmonol. (6) 59, 239 (1991).
Ten kate, L.P. Am. J. hum. Genet. 47, 359–361 (1990).
Shoshani, T. et al. Pediatric Pulmonology, 1991 North American Cystic Fibrosis Conference, 74, 242–243 (1991).
Super, M. & Schwarz, M.J. Eur. J. Pediatr. 151, 108–111 (1992).
Saiki, R.K., Gefland, D.H. & Stoffel, S. Science 239, 487–491 (1988).
Gyllensten, U.B. & Erlich, H.A. Proc. natn. Acad. Sci. U.S.A. 85, 7652–7656 (1988).
Sanger, F., Nicklen, S. & Coulson, A.R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0692-188