title: Simultaneous mutations (A/G(-418) and C/T(-384)) in the apo(a) promoter of individuals with low Lp(a) levels.
abstract: High plasma levels of Lp(a), a low-density lipoprotein particle with an attached apo(a), are associated with the development of atherosclerosis. We present two simultaneous mutations in the apo(a) promoter (A/G(-418) and C/T(-384)) in healthy Indians with a low Lp(a) level (<5 mg/dl). No such mutations were detected in coronary artery disease positive individuals with very high Lp(a) levels (>200 mg/dl). The mutations described here might be useful in understanding the transcriptional regulation of the apo(a) gene.
authors.affiliation: Centre for Biotechnology, Jawaharlal Nehru University, New Delhi, 67, India.
authors.forename: N
authors.initials: N
authors.lastname: Pati
authors.forename: A
authors.initials: A
authors.lastname: Rouf
authors.forename: U
authors.initials: U
authors.lastname: Pati
mesh_terms: D003327:Coronary Disease / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D006801:Humans; D017270:Lipoprotein(a) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic
chemical_list: D017270:Lipoprotein(a)