Linked Life Data

10737984

Source:http://linkedlifedata.com/resource/pubmed/id/10737984

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-4-28
pubmed:abstractText
In Cyprus, no data are yet available on the frequencies of clinically diagnosed FH patients. Further, until now, familial hypercholesterolaemia in Cyprus had not been studied at the molecular level to determine the nature or frequency of LDLR gene mutations. Being a relatively homogeneous population, we anticipated that a few founder mutations would predominate on the island. In the present study, three previously identified LDLR gene mutations were found to cosegregate with high LDL cholesterol levels in 23 unrelated, clinically diagnosed families with FH. Geographical clustering of each of these LDLR gene mutations was indicated, a phenomenon arising from low migration rates and high inbreeding. The latter cultural practices account for the discovery of a homozygous FH sib pair whose parents are carriers of the same mutation. Microsatellite and intragenic haplotype analysis in this FH population, suggested that the families which shared the same LDLR gene mutation have a common origin. This is supported by their relative geographical distribution. Thirty young FH individuals were also offered presymptomatic diagnosis which should facilitate the prevention of premature coronary artery disease. Finally, results from this study support the suggestion that the formation of tendon xanthomata in FH patients may be under environmental influence. Hum Mutat 15:380, 2000.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
380
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.
pubmed:affiliation
Molecular Genetics Unit B-DNA Identification Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't