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- Title
A DNA insertion in the apolipoprotein A-I gene of patients with premature atherosclerosis.
- Authors
Karathanasis, Sotirios K.; Zannis, Vassilis I.; Breslow, Jan L.
- Abstract
Apolipoprotein A-I (apo A-I) is the major protein constituent of high-density lipoprotein (HDL)1. The study of the apo A-I gene is of interest because plasma levels of HDL have been inversely correlated with the development of coronary artery disease2 and because polymorphisms related to this gene have been associated with hypertriglyceridaemia3 and premature atherosclerosis4,5. We have recently isolated and characterized the human apo A-I gene6 and have shown that apo A-I and apoliprotein C-III (apo C-III) genes are physically linked7 and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family5 (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). Here we report that this polymorphism is due an at least 6.5-kilobase (kb) DNA insertion in the coding region of the apo A-I gene and that there is no detectable alteration (as determined by limited genomic blotting analysis) of the apo C-III gene of these patients.
- Publication
Nature, 1983, Vol 305, Issue 5937, p823
- ISSN
0028-0836
- Publication type
Article
- DOI
10.1038/305823a0