Frequency of deletion 508 among Irish cystic fibrosis patients

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

doi:10.1007/BF02428278

Frequency of deletion 508 among Irish cystic fibrosis patients

Hum Genet. 1990 Sep;85(4):403-4. doi: 10.1007/BF02428278.

Authors

M A De Arce¹, D Mulherin, P McWilliam, M Lawler, M X FitzGerald, P Humphries

Affiliation

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

PMID: 2210748
DOI: 10.1007/BF02428278

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion*
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Gene Frequency
Humans
Ireland / epidemiology
Polymerase Chain Reaction