Human Genetics

, Volume 94, Issue 5, pp 533–542

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

  • Thilo Dörk
  • Frauke Mekus
  • Karen Schmidt
  • Jutta Boßhammer
  • Rainer Fislage
  • Thomas Heuer
  • Violetta Dziadek
  • Thomas Neumann
  • Nanette Kälin
  • Ulrich Wulbrand
  • Brigitte Wulf
  • Horst von der Hardt
  • Günther Maaß
  • Burkhard Tümmler
Original Investigation

DOI: 10.1007/BF00211022

Cite this article as:
Dörk, T., Mekus, F., Schmidt, K. et al. Hum Genet (1994) 94: 533. doi:10.1007/BF00211022

Abstract

We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in 350 German CF patients. A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on 95.4% of the CF chromosomes within the coding region and splice sites of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The spectrum of sequence changes comprises 54 different mutations, including 17 missense mutations, 14 nonsense mutations, 11 frameshift mutations, 10 splice site variants and two amino acid deletions. Eleven of these mutations have not previously been described. Our results reflect the marked mutational heterogeneity of CF in a large sample of patients from a non-isolated population.

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Thilo Dörk
    • 1
  • Frauke Mekus
    • 1
  • Karen Schmidt
    • 1
  • Jutta Boßhammer
    • 1
  • Rainer Fislage
    • 1
  • Thomas Heuer
    • 1
  • Violetta Dziadek
    • 1
  • Thomas Neumann
    • 1
  • Nanette Kälin
    • 1
  • Ulrich Wulbrand
    • 1
  • Brigitte Wulf
    • 1
  • Horst von der Hardt
    • 2
  • Günther Maaß
    • 3
  • Burkhard Tümmler
    • 1
  1. 1.Klinische Forschergruppe “Molekulare Pathologie der Mukoviszidose” OE 6711, Medizinische Hochschule HannoverHannoverGermany
  2. 2.Abteilung Pädiatrische Pneumologie, Medizinische Hochschule HannoverHannoverGermany
  3. 3.Abteilung Biophysikalische Chemie, Medizinische Hochschule HannoverHannoverGermany

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