Abstract
The gene responsible for cystic fibrosis (CF) has been recently cloned (Rommens et al., 1989; Riordan et al., 1989; Kerem et al., 1989) and the most common mutation causing CF (deltaF508) has been identified as a three base pair deletion at codon 508 of exon 10 removing a phenylalanine. Since then other mutations have been identified in different exons, and the information necessary for their detection has been distributed through the CF Genetic Analysis Consortium (L.-C. Tsui, personal communications).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Estivill, X., Farrall, M., Scambler, P. J., Bell, G., Hawley, K.M.F., Lench, N.J., Bates, P., Kruyer, H.C., Frederick, P.A., Stainer, P., Watson, E.K., Williamson, R., Wainwright, B.J., 1987a, A candidate for the cystic fibrosis locus isolated by selection for the metilation-free islands, Nature, 326:840.
Estivill, X., Scambler, P.J., Wainwright, B.J., Hawley, K., Frederik, P., Baiget, M., Kere, J., Williamson, R., Farrall, M., 1987b, Patterns of polymorphism and linkage disequilibrium for cystic fibrosis, Genomics, 1:257.
Kerem, B.S., Rommens, J., 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.
Riordan, J.R., Rommens, J., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsis, 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 characterization of complementary DNA, Science, 245:1066.
Rommens, J., Iannuzzi, M.C., Kerem, B., Drumm, M.L., Melmer, G., Dean, M., Rozinahel, R., Cole, J.L., Kennedy, D., Hidaka, 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.
Rommens, J., Kerem, B.-S., Greer, W., Chang, P., Tsui, L.-C., Ray, P., 1990, Rapid nonradioactive detection of the major CF mutation, Am. J. Hum. Genet., 46:395.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Springer Science+Business Media New York
About this chapter
Cite this chapter
Ronchetto, P. et al. (1991). Frequency of Cystic Fibrosis Mutations Among Italian Patients. In: Tsui, LC., Romeo, G., Greger, R., Gorini, S. (eds) The Identification of the CF (Cystic Fibrosis) Gene. Advances in Experimental Medicine and Biology, vol 290. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5934-0_46
Download citation
DOI: https://doi.org/10.1007/978-1-4684-5934-0_46
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5936-4
Online ISBN: 978-1-4684-5934-0
eBook Packages: Springer Book Archive