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

  • Population analysis of the major mutation in cystic fibrosis
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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.

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Authors and Affiliations

  1. Zentralinstitut für Molekularbiologie, Akademie der Wissenschaften der DDR, Robert-Rössle-Strasse 10, DDR-1130, Berlin, German

    K. Grade, K. Will & C. Coutelle

  2. Abteilung Humangenetik, Medizinische Akademie Magdeburg, Leipziger Strasse 44, DDR-3090, Magdeburg, German

    R. Szibor, J. Gedschold & R. Brückner

  3. Institut für Biochemie, German

    I. Bauer, K. Giermann & H. Gorki

  4. Kinderklinik, WPU, Rostock, German

    J. Hein

  5. III. Kinderklinik, Berlin-Buch, German

    U. Brell

Authors
  1. K. Grade
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  2. K. Will
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  3. R. Szibor
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  4. J. Gedschold
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  5. R. Brückner
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  6. I. Bauer
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  7. K. Giermann
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  8. H. Gorki
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  9. J. Hein
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  10. U. Brell
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  11. C. Coutelle
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Grade, K., Will, K., Szibor, R. et al. First analysis of the F508 deletion in cystic fibrosis patients from the GDR. Hum Genet 85, 406–407 (1990). https://doi.org/10.1007/BF02428280

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  • DOI: https://doi.org/10.1007/BF02428280

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