Mol Cell Biochem. 1992 Aug 18;113(2):171-6.

Molecular genetics of human lipoprotein lipase deficiency.

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Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Abstract

Lipoprotein lipase (LPL) hydrolysis the triglyceride core of circulating chylomicrons and very-low-density lipoprotein, and modulates the levels and lipid composition of low and high density lipoproteins. Worldwide, more than 20 mutations in the LPL gene have been identified in patients with familial LPL deficiency. Most of these mutations are clustered in the region encoded by exons 4, 5 and 6 which forms the proposed catalytic domain of LPL. In French Canadians who have the highest reported frequency for LPL deficiency, three common mutations in the LPL gene have been identified which account for approximately 97% of mutant genes in this group. Simple DNA-based tests for the detection of all these mutations have been developed for the screening for carriers of LPL deficiency. This will facilitate further studies of phenotypic expression in heterozygous carriers and assessment of the risk of atherosclerosis in these individuals.

PMID:: 1518507; [PubMed - indexed for MEDLINE]

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Cited by 4 PubMed Central articles

Variable effects of maternal and paternal-fetal contribution to the risk for preeclampsia combining GSTP1, eNOS, and LPL gene polymorphisms. [J Matern Fetal Neonatal Med. 2...]
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Pappa KI, Roubelakis M, Vlachos G, Marinopoulos S, Zissou A, Anagnou NP, Antsaklis A. J Matern Fetal Neonatal Med. 2011 Apr; 24(4):628-35. Epub 2010 Sep 14.
The lipoprotein lipase gene in combined hyperlipidemia: evidence of a protective allele depletion. [Lipids Health Dis. 2006]
The lipoprotein lipase gene in combined hyperlipidemia: evidence of a protective allele depletion.
Wung SF, Kulkarni MV, Pullinger CR, Malloy MJ, Kane JP, Aouizerat BE. Lipids Health Dis. 2006 Jul 5; 5:19. Epub 2006 Jul 5.
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