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Normand, T ; Bergeron, J ; Fernandezmargallo, T ; Bharucha, A ; Venmurthy, MR ; Julien, P ; Gagne, C ; Dionne, C ; Debraekeleer, M ; MA, R ; Hayden, MR ; Lupien, PJ

Geographic-distribution and genealogy of mutation 207 of the lipoprotein-lipase gene in the french-canadian population of quebec

Human Genetics 89 (6) 671-675

par Administrateur - publié le

Abstract :

Mutations in the lipoprotein lipase (LPL) gene, leading to partial or total inactivation of the enzyme, result in a hereditary clinical syndrome called familial LPL deficiency. The French Canadian population, which is primarily and historically located in the province of Quebec, has the highest worldwide frequency of LPL-deficient patients. We have analyzed the prevalence, spatial distribution, and genealogy in the Quebec population of a LPL gene mutation, M-207 (P207L in conventional notation), which changes the amino acid proline to leucine in position 207 of the LPL protein and inactivates the enzyme.