Frequency of deletion 508 among Irish cystic fibrosis patients.

Autor: De Arce MA; Department of Genetics, Trinity College, Dublin, Ireland., Mulherin D, McWilliam P, Lawler M, FitzGerald MX, Humphries P
Jazyk: angličtina
Zdroj: Human genetics [Hum Genet] 1990 Sep; Vol. 85 (4), pp. 403-4.
DOI: 10.1007/BF02428278
Abstrakt: 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.
Databáze: MEDLINE