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The incidence of ΔF508 CF mutation, and associated haplotypes, in a sample of English CF families

  • Population analysis of the major mutation in cystic fibrosis
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Summary

Data are presented for ΔF508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of ΔF508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the ΔF508 mutation on either chromosome.

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Authors and Affiliations

  1. Regional DNA Laboratory, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK

    Eila K. Watson, Edward S. Mayall, Elizabeth M. Thompson, Robert Williamson & Carolyn Williams

  2. Research Center for New Technologies, Macedonian Academy of Sciences and Arts, Krste Misirkov bb, YU-91000, Skopje, Yugoslavia

    Lidija Simova

  3. Department of Paediatrics, Brompton Hospital, Fulham Road, London, UK

    John O. Warner

Authors
  1. Eila K. Watson
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  2. Edward S. Mayall
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  3. Lidija Simova
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  4. Elizabeth M. Thompson
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  5. John O. Warner
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  6. Robert Williamson
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  7. Carolyn Williams
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Watson, E.K., Mayall, E.S., Simova, L. et al. The incidence of ΔF508 CF mutation, and associated haplotypes, in a sample of English CF families. Hum Genet 85, 435–436 (1990). https://doi.org/10.1007/BF02428303

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  • DOI: https://doi.org/10.1007/BF02428303

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