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Human Genetics

, Volume 85, Issue 4, pp 406–407 | Cite as

First analysis of the F508 deletion in cystic fibrosis patients from the GDR

  • K. Grade
  • K. Will
  • R. Szibor
  • J. Gedschold
  • R. Brückner
  • I. Bauer
  • K. Giermann
  • H. Gorki
  • J. Hein
  • U. Brell
  • C. Coutelle
Population analysis of the major mutation in cystic fibrosis

Summary

Cystic fibrosis (CF) patients (n = 157) from the GDR were analysed for the occurrence of the recently discovered 3bp deletion causing CF. About 50% of all investigated patients were homozygotes and about 30% heterozygotes for this deletion. Of the analysed CF chromosomes from these patients, 62% carry the deletion, which is in strong linkage disequilibrium with the KM19 restriction fragment length polymorphism allele 2 and the 1/2 XV2c/KM19 haplotype.

Keywords

Cystic Fibrosis German Democratic Republic Haplo Cystic Fibrosis Carrier Cystic Fibrosis Chromosome 
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

  • K. Grade
    • 1
  • K. Will
    • 1
  • R. Szibor
    • 2
  • J. Gedschold
    • 2
  • R. Brückner
    • 2
  • I. Bauer
    • 3
  • K. Giermann
    • 3
  • H. Gorki
    • 3
  • J. Hein
    • 4
  • U. Brell
    • 5
  • C. Coutelle
    • 1
  1. 1.Zentralinstitut für MolekularbiologieAkademie der Wissenschaften der DDRBerlinGerman
  2. 2.Abteilung Humangenetik, Medizinische Akademie MagdeburgMagdeburgGerman
  3. 3.Institut für BiochemieGerman
  4. 4.Kinderklinik, WPURostockGerman
  5. 5.III. Kinderklinik, Berlin-BuchGerman

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