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Frequency of deletion 508 among Irish cystic fibrosis patients
Authors:Miguel A. De Arce  Diarmuid Mulherin  Peter McWilliam  Mark Lawler  M. X. FitzGerald  Peter Humphries
Affiliation:(1) Department of Genetics, Trinity College, Dublin 2, Ireland;(2) Medical Professorial Unit, University College and St. Vincent's Hospital, Dublin 4, Ireland
Abstract: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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