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ΔF508 deletion in cystic fibrosis in Italian families

  • Population analysis of the major mutation in cystic fibrosis
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Summary

In 20 Italian families with cystic fibrosis (CF), restriction fragment length polymorphisms were detected by five linked markers; a strong linkage disequilibrium is observed between the haplotype B (alleles 2/1 with respect to KM19/XV2c) and CF. The frequency of the ΔF508 deletion in CF chromosomes of this sample is 50%. A significant correlation is found between the absence of the ΔF508 mutation and pancreatic sufficiency.

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Authors and Affiliations

  1. Servizio di Genetica Medica e Dipartimento di Genetica, Biologia e Chimica Medica, Sezione di Genetica, Università di Torino, I-10126, Turin, Italy

    G. Restagno, S. Garnerone, C. Gennaro & A. O. Carbonara

  2. Centro Immunogenetica e Istocompatibilità, CNR, Turin, Italy

    O. Varetto

  3. Cattedra di Pediatria, Istituto di Discipline Pediatriche, Università di Torino, I-10100, Turin, Italy

    N. Ansaldi & B. Santini

  4. Servizio di Pneumologia, Ospedale Infantile Regina Margherita, I-10100, Turin, Italy

    D. Castello

Authors
  1. G. Restagno
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  2. S. Garnerone
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  3. C. Gennaro
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  4. O. Varetto
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  5. N. Ansaldi
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  6. D. Castello
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  7. B. Santini
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  8. A. O. Carbonara
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Restagno, G., Garnerone, S., Gennaro, C. et al. ΔF508 deletion in cystic fibrosis in Italian families. Hum Genet 85, 422–423 (1990). https://doi.org/10.1007/BF02428293

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  • DOI: https://doi.org/10.1007/BF02428293

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