title: Identification of mutations in human apolipoprotein(a) kringle 4-37 from the study of the DNA of peripheral blood lymphocytes: relevance to the role of lipoprotein(a) in atherothrombosis.
abstract: Using a technique that amplifies the DNA region coding for kringle 4-37 of human apolipoprotein(a) we have identified 2 mutations, trp72-->arg and met66-->thr. The former was only present in 2 of the 100 subjects studied, was associated with a lysine-binding defective lipoprotein(a) [Lp(a)], low plasma levels of Lp(a), and no evidence of atherosclerotic cardiovascular disease (ASCVD). The other mutation was present in about 40% of the subjects who had either normal or high plasma levels of Lp(a) and a personal and/or familial history of ASCVD. These studies show that human kringle 4-37 is mutable and that mutations in this kringle can affect the lysine-binding properties of apo(a) and, perhaps, the atherothrombogenic potential of Lp(a).
authors.affiliation: Department of Medicine, Biochemistry and Molecular Biology, University of Chicago, Illinois 60637.
authors.forename: A M
authors.initials: AM
authors.lastname: Scanu
mesh_terms: D001054:Apolipoproteins A / Q000097:blood / Q000235:genetics*; D001161:Arteriosclerosis / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics*; D006801:Humans; D018082:Kringles / Q000235:genetics*; D017270:Lipoprotein(a) / Q000097:blood / Q000235:genetics*; D008214:Lymphocytes / Q000378:metabolism*; D008239:Lysine / Q000097:blood / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D013927:Thrombosis / Q000097:blood / Q000235:genetics*
chemical_list: D001054:Apolipoproteins A; D017270:Lipoprotein(a); D004247:DNA; D008239:Lysine