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Human Genetics

, Volume 85, Issue 4, pp 393–394 | Cite as

Cystic fibrosis in Greece: Typing with DNA probes and identification of the common molecular defect

  • A. Balassopoulou
  • D. Loukopoulos
  • P. Kollia
  • M. Devoto
  • G. Adam
  • S. Arvanitakis
  • H. Hadjisevastou
Population analysis of the major mutation in cystic fibrosis

Summary

The relative frequency of the ΔF508 mutation in the Greek population is 54.1%; this is similar to that reported in other Southern European populations and contrasts with the considerably higher frequencies encountered in Northern Europe and North America. The low frequency is in agreement with the linkage disequilibrium already reported between cystic fibrosis and haplotype B in this country. In contrast to the common association of pancreatic insufficiency with the homozygous ΔF508 genotype, the present study revealed two homozygous children with no evidence of pancreatic failure.

Keywords

Cystic Fibrosis Pancreatic Insufficiency Greek Population AF508 Mutation Cystic Fibrosis Gene 
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.

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • A. Balassopoulou
    • 1
  • D. Loukopoulos
    • 1
  • P. Kollia
    • 1
  • M. Devoto
    • 2
  • G. Adam
    • 3
  • S. Arvanitakis
    • 4
  • H. Hadjisevastou
    • 5
  1. 1.First Department of MedicineUniversity of Athens Medical School “Laikon” HospitalAthensGreece
  2. 2.Laboratorio di Genetica MolecolareIstituto G. GasliniGenoaItaly
  3. 3.Cystic Fibrosis Clinic“Choremeion” Research Center, Aghia Sophia Children's HospitalAthensGreece
  4. 4.Cystic Fibrosis Clinic, Department of PediatricsCentral General HospitalThessalonikiGreece
  5. 5.Laboratory of Cytogenetics, First Department of Pediatrics“Hippokrateion” University HospitalThessalonikiGreece

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