Frequency of Cystic Fibrosis Mutations and Associated Haplotype Distribution in Slovak CF Patients
After the identification of the cystic fibrosis (CF) gene (Kerem et al., 1989; Riordan et al., 1989; Rommens et al., 1989) several mutations have been described in different exons (G. Cutting, M. Dean, M. Goossens, L.-C. Tsui, personal communications). The most frequent of them is the deltaF508 mutation (a 3 bp deletion which results in the loss of a phenyl-alanine residue corresponding to codon 508), which is present in 68% of the total CF chromosomes in the original Canadian sample (Kerem et al., 1989). However, the frequency of deltaF508 varies among different populations: in particular in Europe different frequencies have been observed (Estivill et al., 1989; Mcintosh et al., 1989) and a South-East to North-West gradient of distribution results from an overall analysis of the population data from Europe (EWGCFG, 1990).
KeywordsCystic Fibrosis Normal Chromosome Compound Heterozygote Personal Communica European Working Group
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