Abstract
The recent identification of the cystic fibrosis (CF) gene (Rommens et al., 1989; Riordan et al., 1989; Kerem et al., 1989) and of the three base pair deletion delta F508 as its most common mutation is of great importance both for basic CF research and for clinical genetics. Genetic evidence established that 68% of CF chromosomes were found to carry delta F508 (whereas this mutation was never seen on normal chromosomes) and that chromosomes with the deletion nearly always had an (XV-2c)l, (KM.19)2 haplotype (previously designated as a “high risk” haplotype for CF) .
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References
Estivill, X., Chillon, M., Casals, T., Bosch, A., Morral, N., Nunes, V., Gasparini, P., 1989, Delta F508 gene deletion in cystic fibrosis in southern Europe, The Lancet, dec. 9, 1404.
Kerem, B.S., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, L.-C. Tsui, 1989, Identification of the cystic fibrosis gene : genetic analysis, Science, 245:1073.
Mcintosh, I., Lorenzo, M.L., Brock, D.J., 1989, Frequency of delta F508 mutation on cystic fibrosis chromosomes in UK, The Lancet, Dec. 9, 1404.
Riordan, J.R., Rommens, J.M., Kerem, B.S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, 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., Iannuzzi, M.C., Kerem, B.S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J.L., Kennedy, D., Zsiga, N.H.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.
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© 1991 Springer Science+Business Media New York
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Lucotte, G., Barre, E. (1991). Cystic Fibrosis Delta F508 Mutation in a French Population. 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_41
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DOI: https://doi.org/10.1007/978-1-4684-5934-0_41
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