title: [The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population].
abstract: The spectrum of mutations in the low-density lipoprotein (LDL) receptor gene was studied in a sample of hypercholesterolemia patients of Caucasoid origin from the population of Russia. The examined patients were 45 to 49-years-old and had the highest level of total serum cholesterol in this age group. Seven previously non-described mutations have been revealed in exon 9 (R410G; M412V) and in exon 12 (Y/Y576; N/N591; L605V; L605R; A612G). Twelve previously described mutations have been identified in exons 2 (C/C27), 5 (C261F; E240X), 6 (E288K), 8 (A391T), 9 (E418G; L432R; D433E), 11 (G/G549; E558K; L/L568), and 12 (G592E). Only one of these mutations was previously described in Russia in a clinical sample of patients with familial hypercholesterolemia. The spectrum of LDL receptor gene mutations in the population sample of patients with hypercholesterolemia significantly differs from the mutation spectrum in patients with familial hypercholesterolemia (clinical samples). Sequencing of the LDL receptor gene is a highly efficient method for identifying the markers of hypercholesterolemia predisposition in a population.
authors.forename: M I
authors.initials: MI
authors.lastname: Voevoda
authors.forename: I V
authors.initials: IV
authors.lastname: Kulikov
authors.forename: E V
authors.initials: EV
authors.lastname: Shakhtshneĭder
authors.forename: V N
authors.initials: VN
authors.lastname: Maksimov
authors.forename: I V
authors.initials: IV
authors.lastname: Pilipenko
authors.forename: I P
authors.initials: IP
authors.lastname: Tereshchenko
authors.forename: V F
authors.initials: VF
authors.lastname: Kobzev
authors.forename: A G
authors.initials: AG
authors.lastname: Romashchenko
authors.forename: Iu P
authors.initials: IuP
authors.lastname: Nikitin
mesh_terms: D019943:Amino Acid Substitution; D005091:Exons / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population / Q000379:methods; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia; D044465:White People / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D011973:Receptors, LDL