Frequency of deletion 508 among Irish cystic fibrosis patients


Autoria(s): De Arce, M A; Mulherin, D; McWilliam, P; Lawler, M; FitzGerald, M X; Humphries, P; Lawler, Mark
Data(s)

01/09/1990

Resumo

<p>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.</p>

Identificador

http://pure.qub.ac.uk/portal/en/publications/frequency-of-deletion-508-among-irish-cystic-fibrosis-patients(4fcaa35e-544a-461b-9f27-9e5a4d35c673).html

Idioma(s)

eng

Direitos

info:eu-repo/semantics/restrictedAccess

Fonte

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 , vol 85 , no. 4 , pp. 403-4 .

Palavras-Chave #Chromosome Deletion #Cystic Fibrosis #Gene Frequency #Humans #Ireland #Polymerase Chain Reaction
Tipo

article