title: DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.
abstract: Polymorphism in a DNA sequence has been observed on the 3'-flanking region of the human apoprotein-A-1 gene. The frequency of the heterozygous state in a healthy control population (n = 73) is around 0.05. However, 12 (frequency 0.34) out of 35 subjects with hypertriglyceridaemia were found to have the polymorphic site, and 2 were homozygous for this variant. The mutant allele may constitute a linkage marker for some abnormality within the apoprotein-A-1 gene, affecting either expression of or some minor structural modification of the A-1 apoprotein, that may predispose to hypertriglyceridaemia.
mesh_terms: D016632:Apolipoprotein A-I; D001053:Apolipoproteins / Q000032:analysis / Q000235:genetics*; D001345:Autoradiography; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000209:etiology*; D008075:Lipoproteins, HDL / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D016632:Apolipoprotein A-I; D001053:Apolipoproteins; D008075:Lipoproteins, HDL; D004247:DNA