Advertisement

Origin and Diffusion of the Major CF Mutation in Europe

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

Abstract

After the localization of the locus on chromosome 7, several RFLPs have been isolated in strong linkage disequilibrium with the CF mutations (Estivill et al., 1987a; 1987b; Rommens et al.,). However, the degree of disequilibrium and the distribution of the haplotypes defined by these polymorphisms were different in different populations. In particular, it soon became evident that a more heterogeneous distribution was present in the Southern Europe with respect to Northern Europe, and therefore it was possible to hypothesize that a more heterogeneous distribution of mutations was present in Southern Europe (Estivill et al., 1988). At the same time, data from different groups showed that there was a correleation between presence of the most frequent haplotype and pancreatic insufficiency in CF patients, suggesting that the mutaion assocaited with this haplotype was a related to a severe phenotype in CF patients (Karem et al., 1989a; Devoto et al., 1989; Ferrari et al., 1990).

Keywords

Cystic Fibrosis Pancreatic Insufficiency Normal Chromosome Cystic Fibrosis Gene Cystic Fibrosis Chromosome 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Ammerman, A. J., Cavalli-Sforza, L.L., 1984, The Neolithic Transition and the Genetics of Populations in Europe, Princeton University Press, Princeton, NJ.Google Scholar
  2. Devoto, M., De Benedetti, L., Seia, M., Piceni Sereni, L., Ferrari, M., Bonduelle, M.L., Malfroot, A., Lissens, W., Balassopoulou, A., Adam, G., Loukopoulos, D., Cochaux, P., Vassart, G., Szibor, R., Hein, J., Grade, K., Berger, W., Wainwright, B., Romeo, G., 1989, Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations, Genomics, 5:894.PubMedCrossRefGoogle Scholar
  3. 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.PubMedCrossRefGoogle Scholar
  4. 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.PubMedCrossRefGoogle Scholar
  5. Estivill, X., Farrall, M., Williamson, R., Ferrari, M., Seia, M., Giunta, A., Novelli, G., Potenza, L., Dallapiccola, B., Borgo, G., Gasparini, P., Pignatti, P.F., De Benedetti, L., Vitale, E., Devoto, M., Romeo, G., 1988, Linkage disequilibrium between cystic fibrosis and linked DNA markers in Italian families: a collaborative study, Am. J. Hum. Genet., 43:23.PubMedGoogle Scholar
  6. Estivill, X., Chillon, M., Casals, T., Bosch, A., Morral, N., Nunes, V., Gasparini, P., Seia, A., Pignatti, P.F., Novelli, G., Dallapiccola, B., Fernandez, E., Benitez, J., Williamson, R., 1989, DeltaF508 gene deletion in cystic fibrosis in Southern Europe, Lancet, II:1404.CrossRefGoogle Scholar
  7. Ferrari, M., Antonelli, M., Bellini, F., Borgo, G., Castiglione, O., Curcio, L., Dallapiccola, B., Devoto, M., Estivill, X., Gasparini, P., Giunta, A., Marianelli, L., Mastella, G., Novelli, G., Pignatti, P.F., Romano, L., Romeo, G., Seia, M., Williamson, R., 1990, Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study, Hum. Genet., (in press).Google Scholar
  8. Kerem, B., Buchanan, J.A., Durie, P., Corey, M.L., Levison, H., Rommens, J.M., Buchwald, M., Tsui, L.C., 1989a, DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis, Am. J. Hum. Genet., 44:827.PubMedGoogle Scholar
  9. Kerem, B.S., Rommens, J., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M., Tsui, L.C., 1989b, Identification of the cystic fibrosis gene: genetic analysis, Science, 245:1073.PubMedCrossRefGoogle Scholar
  10. Mcintosh, I., Lorenzo, M.L., Brock, D.J.H., 1989, Frequency of the deltaF508 mutation on cystic fibrosis chromosomes in UK, Lancet, ii:1404.CrossRefGoogle Scholar
  11. 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.PubMedCrossRefGoogle Scholar
  12. Rommens, J.M., Zengerling, S., Burns, J., Melmer, G., Kerem, B., Plavsic, N., Zsiga, M., Kennedy, D.M., Markiewicz, D., Rozmahel, R., Riordan, J.R., Buchwald, M., Tsui, L.C., 1988, Identification and regional localization of DNA markers on chromosomes 7 for the cloning of the cystic fibrosis gene, Am. J. Hum. Genet., 43:645.PubMedGoogle Scholar
  13. Rommens, J., Iannuzzi, M.C., Kerem, B., 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.PubMedCrossRefGoogle Scholar
  14. Serre, J.L., Simon-Bouy, B., Mornet, E., Jaume-Roig, B., Balas-sopoulou, A., Schwartz, M., Thaillandier, A., Bouè, J., Bouè, A., 1989, Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in population genetics, Hum. Genet., (in press).Google Scholar

Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • Marcella Devoto

There are no affiliations available

Personalised recommendations