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 

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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