Cystic Fibrosis — A Strategy for the Future

  • Robert Williamson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 290)


The identification of the cystic fibrosis locus must be regarded as a major triumph for human molecular genetics. In less than five years, it has been possible to move from the designation of the chromosomal location of CF to the identification of the previously unknown protein which is mutated. This work is a credit to all of the groups which participated in it, and particularly to the Toronto and Ann Arbor groups, which identified the sequence coding for the cystic fibrosis transmembrane regulator as the mutated gene. However, as powerful as molecular genetics is, it can only provide the first step towards understanding the correlation between structure and function for CFTR, analysing the clinical correlates between gene and pathology, gaining knowledge of the population genetics of CF (including the numbers of mutations, as well as the question of whether or not there is a carrier advantage), and progressing to prevention through carrier testing in the community and to treatment through the development of pharmaceuticals and (ultimately) somatic gene therapy. The solutions to these problems will require the recruitment of new groups, with different techniques, to the CF research community.


Cystic Fibrosis Duchenne Muscular Dystrophy Cystic Fibrosis Transmembrane Regulator Cystic Fibrosis Carrier CystIc FIbrosIs 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Beaudet, A., Bowcock, A., Buchwald, M., Cavalli-Sforza, L., Farrall, M., King, M.C., Klinger, K., Lalouel, J.-L., Lathrop, G., Naylor, S., Ott, J., Tsui, L.-C., Wainwright, B., Watkings, P., White, R., Williamson, R., 1986, Linkage of Cystic Fibrosis to Two Tightly Linked DNA Markers: Joint Report from a Collaborative Study, Am. J. Hum. Genet., 39:681.PubMedGoogle Scholar
  2. Brock, D.J.H., Clarke, H.A.K., Barron, L. 1987, Prenatal Diagnosis of Cystic Fibrosis by Microvillar Enzyme Assay on a Series of 258 Pregnancies, Hum. Genet., 78:271.CrossRefGoogle Scholar
  3. Davies, K.E., Giniam, T.C., Williamson, R., 1983, Cystic fibrosis is not caused by a defect in the gene coding for human complement C3, Mol. Biol. Med., 1:185.PubMedGoogle Scholar
  4. Eiberg, H., Mohr, J., Schmiegelow, K., Nielsen, L.S., Williamson, R., 1985, Linkage Relationships of Paraoxonase with other Markers: Identification of PON-Cystic Fibrosis Synteny, Clin. Genet., 28:265.PubMedCrossRefGoogle Scholar
  5. Estivill, X., Farrall, M., Scambler, P.J., Bell, G.M., Hawley, K.M.F., Lench, N.J., Bates, G.P., Kruyer, H.C., Frederick, P.A., Stanier, P., Watson, E.K., Williamson, R., Wainwright, B. J., 1987, A Candidate for the Cystic Fibrosis Locus Isolated by Selection for HTF Islands, Nature, 326:840.PubMedCrossRefGoogle Scholar
  6. Kan, Y.W., Dozy, A.M., 1978, Polymorphism of DNA Sequence Adjacent to Human β-Globin Structural Gene: Relationship to Sickle Mutation, Proc. Natl. Acad. Sci. USA, 75:5631.PubMedCrossRefGoogle Scholar
  7. Kerem, B., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M., Tsui, L.-C., 1989, Identification of the Cystic Fibrosis Gene: Genetic Analysis, Science, 245:1073.PubMedCrossRefGoogle Scholar
  8. Little, P.F.R., Curtis, P., Coutelle, C.H., Van den Berg, J., Dalgleish, R., Malcolm, S., Courtney, M., 1978, The Isolation and Partial Sequence of Recombinant Plasmids containing Human α-, β - and gamma-Globin cDNA Fragments, Nature, 273:640.PubMedCrossRefGoogle Scholar
  9. Monaco, A.P., Neve, R.L., Colletti-Feener, C., Bertelson, C.J., Kurnit, D.M., Kunkel, L.M., 1986, Isolation of Candidate cDNAs for Portions of the Duchenne muscular dystrophy Gene, Nature, 323:646.PubMedCrossRefGoogle Scholar
  10. Murray, J.M., Davies, K.E., Harper, P.S., Meredith, L., Muller, C, Williamson, R., 1982, Linkage Relationship of a Cloned DNA Sequence on the Short Arm of the X Chromosome to Duchenne Muscular Dystrophy, Nature, 300:69.PubMedCrossRefGoogle Scholar
  11. Nadler, H.L., Walsh, M.M.J., 1980, Intrauterine Detection of Cystic Fibrosis, Pediatrics, 66:690.PubMedGoogle Scholar
  12. Poustka, A.M., Lehrach, H., Williamson, R., Bates, G.P., 1988, A Long Range Restriction Map Encompassing the CF Locus and its Closely Linked Genetic Markers, Genomics, 2:337.PubMedCrossRefGoogle Scholar
  13. Riordan, J.R., Rommens, J.M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, J., Lok, S., Plasvic, N., Chou, J.L., Drumm, M.L., Iannuzzi, M.C., Collins, F.S., Tsui, L.-C., 1989, Identification of the Cystic Fibrosis Gene: Cloning and Characterisation of Complementary DNA, Science, 245:1066.PubMedCrossRefGoogle Scholar
  14. Rommens, J.M., Iannuzzi, M.C., Kerem, B., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J.L., Kennedy, D., Idaka, N., Zsiga, M., Buchwald, M., Riordan, J.R., Tsui, L.-C., Collins, F.S., 1989, Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping, Science, 245:1059.PubMedCrossRefGoogle Scholar
  15. Romeo, G., 1984, Cystic Fibrosis: A Single Locus Disease in: Cystic Fibrosis: Horizons, D. Lawson, ed., Wiley, London.Google Scholar
  16. Solomon, E., Bodmer, W.F., 1979, Evolution of Sickle Variant Gene, Lancet, i:923.CrossRefGoogle Scholar
  17. Talamo, R.C., Rosenstein, B.J., Berninger, R.W., 1983, Cystic Fibrosis, in: The Metabolic Basis of Inherited Disease, D. Stanbury, ed., McGraw Hill, New York.Google Scholar
  18. Tsui LC, Buchwald, M., Barker, D., Braman, J.C., Knowlton, R., Schumm, J.W., Eiberg, H., Mohr, J., Kennedy, D., Plavsik, N., Zsiga, M., Markiewicz, D., Akots, G., Brown, V., Helms, C., Gravius, T., Parker, C., Rediker, K., Donis-Keller, H., 1985, Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker, Science 230:1054.PubMedCrossRefGoogle Scholar
  19. Wainwright; B. J., Scambler, P.J., Schmidtke, J., Watson, E.S., Law, H.Y., Farrall, M.J., Cooke, H.J., Eiberg, H., Williamson, R., 1985, Localisation of the Cystic Fibrosis Locus to Human Chromosome 7cen-7q22, Nature, 318:384.PubMedCrossRefGoogle Scholar
  20. White, R., Woodward, S., Leppert, M., O’Connell, P., Hoff, M., Herbst, J., Lalouel, J.M., 1985, A Closely Linked Genetic Marker for Cystic Fibrosis, Nature, 318:382.PubMedCrossRefGoogle Scholar
  21. Williamson, R., Gilliam, C.T., Blaxter, M., Scambler, P., Robbins, T.P., Davies, K.E., 1984, Gene cloning -a Tool to Find the Basic Defect in Cystic Fibrosis, in: Cystic Fibrosis: Horizons, D. Lawson, ed., Wiley, London.Google Scholar
  22. Williamson, R., Allison, M.E.D., Bentley, T.J., Lim, S.M.C., Watson, E., Chappie, J., Adam, S., 1989, Community Attitudes to Cystic Fibrosis Carrier Testing in England: A Pilot Study , Prenatal Diag., 9:727.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • Robert Williamson
    • 1
  1. 1.Department of Molecular Genetics, St. Mary’s Hospital Medical SchoolImperial CollegeLondonEngland

Personalised recommendations