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).
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Devoto, M. (1991). Origin and Diffusion of the Major CF Mutation in Europe. 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_9
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DOI: https://doi.org/10.1007/978-1-4684-5934-0_9
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