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)


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).


Cystic Fibrosis Pancreatic Insufficiency Normal Chromosome Cystic Fibrosis Gene Cystic Fibrosis Chromosome 
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© Springer Science+Business Media New York 1991

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  • Marcella Devoto

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