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Ma, YH ; Henderson, HE ; Venmurthy, MR ; Roederer, G ; Monsalve, MV ; Clarke, LA ; Normand, T ; Julien, P ; Gagne, C ; Lambert, M ; Davignon, J ; Lupien, PJ ; Brunzell, J ; Hayden, MR

A mutation in the human lipoprotein-lipase gene as the most common cause of familial chylomicronemia in french-canadians

New England Journal of Medicine 324 (25) 1761-1766

par Administrateur - publié le

Abstract :

Background. 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. Methods. 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. Results.