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Frequency of deletion 508 among Irish cystic fibrosis patients

  • Population analysis of the major mutation in cystic fibrosis
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Summary

We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.

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Authors and Affiliations

  1. Department of Genetics, Trinity College, Dublin 2, Ireland

    Miguel A. De Arce, Peter McWilliam, Mark Lawler & Peter Humphries

  2. Medical Professorial Unit, University College and St. Vincent's Hospital, Dublin 4, Ireland

    Diarmuid Mulherin & M. X. FitzGerald

Authors
  1. Miguel A. De Arce
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  2. Diarmuid Mulherin
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  3. Peter McWilliam
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  4. Mark Lawler
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  5. M. X. FitzGerald
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  6. Peter Humphries
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De Arce, M.A., Mulherin, D., McWilliam, P. et al. Frequency of deletion 508 among Irish cystic fibrosis patients. Hum Genet 85, 403–404 (1990). https://doi.org/10.1007/BF02428278

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  • DOI: https://doi.org/10.1007/BF02428278

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