Journal of Clinical Investigation · 1985 · 158 citations · 18 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsGenetic RiskGenotype-phenotype Association AnalysisLipid Disorder GeneticsLipid DisordersLipid Metabolism DisordersLipoprotein AnalysisDna Sequence AnalysisDna Sequence CompositionHigh-density Lipoprotein MetabolismTriglyceride Metabolism Disorders
A DNA sequence polymorphism, revealed by digestion of human DNA with the restriction endonuclease Sst-1 and hybridization with an apolipoprotein A-I complementary DNA clone, has been shown to be located in or close to the 3' noncoding region of the apolipoprotein C-III gene. This polymorphism is found in significantly increased prevalence (P less than 0.001) in Caucasian hypertriglyceridemic subjects compared with race-matched controls, and its distribution in normal individuals of differing racial origins is reported. Furthermore, no alteration of high density lipoprotein or apolipoprotein A-I and apolipoprotein C-III phenotypes was observed in individuals with or without the polymorphism.
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Hypertriglyceridemia Associated with Deficiency of Apolipoprotein C-II
W. C. Breckenridge, J.A. Little, George Steiner et al. · New England Journal of Medicine · 1978 · 603 citations