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Frequency of Cystic Fibrosis Mutations and Associated Haplotype Distribution in Slovak CF Patients

  • A. Puliti
  • J. J. Telleria Orriols
  • P. Ronchetto
  • L. Fenu
  • M. Devoto
  • G. Romeo
  • L. Kadasi
  • J. Gecz
  • V. Ferak
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 290)

Abstract

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).

Keywords

Cystic Fibrosis Normal Chromosome Compound Heterozygote Personal Communica European Working Group 
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.

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References

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Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • A. Puliti
    • 1
  • J. J. Telleria Orriols
    • 1
  • P. Ronchetto
    • 1
  • L. Fenu
    • 1
  • M. Devoto
    • 1
  • G. Romeo
    • 1
  • L. Kadasi
    • 2
  • J. Gecz
    • 2
  • V. Ferak
    • 2
  1. 1.Laboratorio di Genetica MolecolareIstituto Giannina GasliniGenoaItaly
  2. 2.Institute of Molecular Physiology and GeneticsSlovak Academy of ScienceBratislavaCzechoslovakia

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