Linked Life Data

8956036

Source:http://linkedlifedata.com/resource/pubmed/id/8956036

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-3-28
pubmed:abstractText
It has been suggested that apo A-IV may play a role in modulating the activation of lipoprotein lipase (LPL) by apo C-II (Goldberg et al., 1990). Therefore, the role of genetic variation at the apolipoprotein A-IV locus in familial combined hyperlipidemia (FCHL) was investigated. A subset of FCHL patients with half the level of plasma LPL activity was screened by single-strand conformation polymorphism (SSCP) for variants in the apolipoprotein A-IV gene. Two of 20 such individuals were found to be heterozygous carriers of previously undescribed amino acid substitutions: S158L and R 244Q substitutions, designated A-IV-Seattle-1 and A-IV-Seattle-2, respectively. These substitutions were not detected among 20 other FCHL patients with normal LPL levels and among 97 unselected medical students. The finding of these two alleles among only the 20 patients with FCHL with reduced levels of LPL suggests an association with this phenotype. It is hypothesized that these two alleles may contribute, along with alleles of other genes or environmental factors, to the development of FCHL. A third previously undescribed variant (A141S) was observed in four (two homozygotes and two heterozygotes) of the 97 medical students.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
319-25
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.
pubmed:affiliation
Department of Medicine, University of Washington, Seattle 98195, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.