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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in french canadians
New England Journal of Medicine, Volume 324, No. 25, Year 1991
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Description
Lipoprotein lipase hydrolyzes the triglyceride core of chylomicrons and very-low-density lipoproteins and has a crucial role in regulating plasma lipoprotein levels. Deficiencies of lipoprotein lipase activity lead to aberrations in lipoprotein levels. Worldwide, the frequency of lipoprotein lipase deficiency is highest among French Canadians. We sought to determine the molecular basis of the disorder in this population. The entire coding sequence of the lipoprotein lipase gene from one French Canadian patient was amplified by the polymerase chain reaction and sequenced. Exon 5 from 36 other French Canadian patients was amplified and analyzed by dot blot hybridization with allele-specific oligonucleotides. Sequence analysis revealed a missense substitution of leucine (CTG) for proline (CCG) at residue 207 in exon 5. This mutation was found on 54 of the 74 mutant alleles (73 percent) in the patients. Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of lipoprotein lipase deficiency. We have identified a missense mutation at residue 207 of the lipoprotein lipase gene that is the most common cause of lipoprotein lipase deficiency in French Canadians. This mutation can be easily detected by dot blot analysis, providing opportunity for definitive DNA diagnosis of the disorder and identification of heterozygous carriers. (N Engl J Med 1991; 324:1761–6.) © 1991, Massachusetts Medical Society. All rights reserved.
Authors & Co-Authors
Ma, Yuanhong
Canada, Vancouver
The University of British Columbia
Henderson, Howard E.
Canada, Vancouver
The University of British Columbia
Monsalve, María Victoria
Canada, Vancouver
The University of British Columbia
Clarke, Lorne Andrew
Canada, Vancouver
The University of British Columbia
Hayden, Michael R.
Canada, Vancouver
The University of British Columbia
Ven Murthy, M. R.
Unknown Affiliation
Julien, Pierre
Unknown Affiliation
Gagné, Claudé E.
Unknown Affiliation
Lupien, Paul Joseph
Unknown Affiliation
Roederer, Ghislaine O.
Unknown Affiliation
Davignon, Jean
Unknown Affiliation
Statistics
Citations: 88
Authors: 11
Affiliations: 3
Identifiers
Doi:
10.1056/NEJM199106203242502
ISSN:
00284793
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study