Frequency of deletion 508 among Irish cystic fibrosis patients

M A De Arce, D Mulherin, P McWilliam, M Lawler, M X FitzGerald, P Humphries, Mark Lawler

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Abstract

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.

Original languageEnglish
Pages (from-to)403-4
Number of pages2
JournalHuman genetics
Volume85
Issue number4
Publication statusPublished - Sep 1990

Keywords

  • Chromosome Deletion
  • Cystic Fibrosis
  • Gene Frequency
  • Humans
  • Ireland
  • Polymerase Chain Reaction

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    De Arce, M. A., Mulherin, D., McWilliam, P., Lawler, M., FitzGerald, M. X., Humphries, P., & Lawler, M. (1990). Frequency of deletion 508 among Irish cystic fibrosis patients. Human genetics, 85(4), 403-4.