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Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population

  • Population analysis of the major mutation in cystic fibrosis
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Summary

We have measured the frequency of the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the ΔF508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.

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Authors and Affiliations

  1. Institut für Humangenetik, Freie Universität Universitätsklinikum Charlottenburg, Heubnerweg 6, D-1000, Berlin 19, Germany

    André Reis, Ingolf Böhm, Milan Macek, Manfred Stuhrmann & Jörg Schmidtke

  2. Kinderklinik, Universitätsklinikum Charlottenburg, Heubnerweg 6, D-1000, Berlin 19, Germany

    Thilo Dörk, Frank Schnieders & Ulrich Wahn

  3. Abteilung Biophysikalische Chemie, Konstanty-Gutschow-Strasse 8, D-3000, Hannover 61, Germany

    Silvia Bremer & Burkhard Tümmler

  4. Abteilung Humangenetik, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, D-3000, Hannover 61, Germany

    Joachim Hundrieser

  5. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany

    Manfred Schlösser, Michael Wagners, Jochen Reisse & Michael Krawczak

  6. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, D-6900, Heidelberg, Germany

    Margarete Dueck & Friedrich K. Trefz

  7. Universitäts-Kinderklinik, Theodor-Stern-Kai 7, D-6000, Frankfurt, Germany

    Hans-Georg Posselt

Authors
  1. André Reis
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  2. Silvia Bremer
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  3. Manfred Schlösser
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  4. Margarete Dueck
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  5. Ingolf Böhm
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  6. Joachim Hundrieser
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  7. Milan Macek
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  8. Manfred Stuhrmann
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  9. Michael Wagners
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  10. Thilo Dörk
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  11. Frank Schnieders
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  12. Hans-Georg Posselt
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  13. Ulrich Wahn
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  14. Jochen Reisse
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  15. Friedrich K. Trefz
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  16. Burkhard Tümmler
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  17. Michael Krawczak
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  18. Jörg Schmidtke
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Reis, A., Bremer, S., Schlösser, M. et al. Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population. Hum Genet 85, 421–422 (1990). https://doi.org/10.1007/BF02428292

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  • DOI: https://doi.org/10.1007/BF02428292

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