title: LDL-receptor gene polymorphism in patients with early-onset coronary artery disease.
abstract: Simultaneous amplification of the promoter and 17 (out of 18) exons of the LDL-R gene (along with flanking intron sequences) was performed in 36 patients with hypercholesterolemia and early-onset coronary artery disease. The identification of the PCR-products on denaturing gradient gel electrophoresis (DGGE) revealed 34 cases of heteroduplexes in 24 patients. The heteroduplexes in exons 12, 10, and 2 (31%, 28% and 22%, respectively) probably reflect common polymorphism of LDL-R gene, while heteroduplexes in exons 6, 4 and 13 are less frequent (5.6%, 5.6%, and 2.8%, respectively). Significant association between the genetic variants, or polymorphism with clinical manifestations, could not be established.
authors.affiliation: Department of Clinical Laboratory, Higher Medical Institute, Plovdiv, Bulgaria.
authors.forename: N
authors.initials: N
authors.lastname: Atanassov
authors.forename: V
authors.initials: V
authors.lastname: Markova
authors.forename: T
authors.initials: T
authors.lastname: Boev
authors.forename: T
authors.initials: T
authors.lastname: Keremidtchieva
authors.forename: L
authors.initials: L
authors.lastname: Vladimirova
authors.forename: A
authors.initials: A
authors.lastname: Djurdjev
mesh_terms: D000328:Adult; D017668:Age of Onset; D003327:Coronary Disease / Q000150:complications / Q000235:genetics*; D005091:Exons; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications / Q000235:genetics; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D009692:Nucleic Acid Heteroduplexes; D011973:Receptors, LDL