Linked Life Data

7766956

Source:http://linkedlifedata.com/resource/pubmed/id/7766956

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1995-7-6
pubmed:abstractText
Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent mutation. R408W was the most common mutation found, with a relative frequency of 42%. All other mutations had relative frequencies of < 10%. VNTR analysis showed that the R408W mutation is associated with the VNTR-8 allele in the Irish population, indicating that R408W is associated with RFLP haplotype 1. This differs from that reported from eastern Europe where R408W is associated with RFLP haplotype 2/VNTR-3; an observation which has led several groups to propose a Balto-Slavic origin for this mutation. These results support the hypothesis of a second, independent founding event for the R408W mutation on an RFLP haplotype 1 VNTR-8 chromosome background in the Irish/Celtic population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0803-5326
pubmed:author
pubmed:issnType
Print
pubmed:volume
407
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
43-4
pubmed:dateRevised
2008-5-12
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Molecular analysis of PKU in Ireland.
pubmed:affiliation
Department of Pathology, Children's Hospital, Dublin, Ireland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't