Abstract
The gene for cystic fibrosis (CF) has recently been isolated (Rommens et al., 1989a; Riordan et al., 1989; Kerem et al., 1989) rendering it possible for the first time to study the elusive symptoms of the disease. In this brief review, we try to summarize our current understanding of the CF gene and our attempts to study the gene product and its function. We have also included a short discussion on the correlation between genotype and phenotype in CF patients.
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References
Cutting, G.R., Kasch, L.M., Rosenstein, B.J., Zielensky, J., Tsui, L.-C., Antonarakis, S.E., Kazakian, H.H. Jr., 1990, Characterization of a cluster of disease-producing mutations in the first nucleotide binding fold domain of the CF gene, Nature, 346:366.
Dean, M., White, M.B., Amos, J., Gerrard, B., Stewart, C., Khaw, K.-T., Leppert, M., 1990, Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients, Cell, 61:863.
Kerem, B., Buchanan, J.A., Durie, P., Corey, M., Levison, H., Buchwald, M., Tsui, L.-C., 1989, DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis, Am. J. Hum. Genet., 44:827.
Kerem, B., Rommens, J.R., Buchanan, J.A., Markierwicz, D., Cox, T.K., Charkravarti, A., Buchwald, M., Tsui, L.-C., 1989, Identification of the cystic fibrosis gene: genetic analysis, Science, 245:1073.
Kerem, B., Zielenski, J., Markeiwicz, D., Bozon, D., Gazit, E., Yahav, J., Kennedy, K., Riordan, J.R., Collins, F.S., Rommens, J.M., Tsui, L.-C., 1990a, Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene, Proc. Natl. Acad. Sci. USA (in press).
Kerem, E., Corey, M., Kerem, B., Rommens, J., Markiewicz, D., Levison, H., Tsui, L.-C., Durie, P., 1990b, Association between the major mutation (deltaF508) and phenotypes in cystic fibrosis, New Eng. J. Med. (in press).
Lemna, W.K., Feldman, G.L., Kerem, B., Fernbach, S.D., Zevkovich, E.P., O’Brien, W.E., Collins, F.S., Tsui, L.C., Beaudet, A.L., 1990, Mutation analysis for heterozygote detection and prenatal diagnosis of cystic fibrosis, N. Eng. J. Med., 322:291.
Riordan, J.R., Rommens, J.M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Zielensky, J., Lok, S., Plavsic, 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.M., Zengerling, S., Burns, J., Melmer, G., Kerem, B., Plavsic, N., Zsiga, M., Kennedy, D., Markiewicz, D., Rozmahel, R., Riordan, J.R., Buchwald, M., Tsui, L.-C., 1988, Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene, Am. J. Hum. Genet., 43:645.
Rommens, J.M., Zengerling-Lentes, S., Kerem, B., Melmer, G., Buchwald, M., Tsui, L.-C., 1989, Physical localization of two DNA markers closely linked to the cystic fibrosis gene by pulsed field gel electrophoresis, Am. J. Hum. Genet., 45:932.
Rommens, J.M., Iannuzzi, M.C., Kerem, B., Melmer, G., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, 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., Greer, W., Chang, P., Tsui, L.-C, Ray, P., 1990, Rapid non-radioactive detection of the major CF mutation, Am. J. Hum. Genet., 46:395.
Vidaud, M., Fanen, P., Martin, J., Ghanem, N., Nicolas, S., Goossens, M., 1990, Three mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis, Human Genetics (in press).
White, M.B., Amos, J., Hsu, J.M.C., Gerrard, B., Finn, P., Dean, M., 1990, A frame-shift mutation in the cystic fibrosis gene, Nature, 344:665.
Worldwide survey of the deltaF508 mutation. Report from the Cystic Fibrosis Genetic Analysis Consortium, 1990, Am. J. Hum. Genet., 47:354.
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Tsui, LC. et al. (1991). Molecular Genetics of Cystic Fibrosis. 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_2
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DOI: https://doi.org/10.1007/978-1-4684-5934-0_2
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