title: Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. The spectrum of LDLR gene mutations in Russia is poorly known. Using polymerase chain reaction (PCR)-single-strand conformational polymorphism (SSCP) analysis, followed by DNA sequencing, we have screened selected exons of the LDLR gene in 80 unrelated St. Petersburg FH patients for the presence of mutations. Two new LDLR gene mutations, 347delGCC and E397X, were characterized among individuals with familial hypercholesterolemia in St. Petersburg. The carriers of both mutations possessed highly elevated blood serum cholesterol. Cosegregation of E397X mutation and LDLR gene RFLP haplotypes with hyperlipidemia was demonstrated by family study. Both mutations seem to be specific to Slavic patients.
authors.affiliation: Petersburg Nuclear Physics Institute, Russian Academy of Sciences, Gatchina, 188350, Russia.
authors.forename: K
authors.initials: K
authors.lastname: Chakir
authors.forename: C
authors.initials: C
authors.lastname: Kh
authors.forename: M M
authors.initials: MM
authors.lastname: Ju
authors.forename: S P
authors.initials: SP
authors.lastname: Shevtsov
authors.forename: V I
authors.initials: VI
authors.lastname: Golubkov
authors.forename: N A
authors.initials: NA
authors.lastname: Skobeleva
authors.forename: Y A
authors.initials: YA
authors.lastname: Shur
authors.forename: F M
authors.initials: FM
authors.lastname: Zakharova
authors.forename: B M
authors.initials: BM
authors.lastname: Lipovetskyi
authors.forename: V O
authors.initials: VO
authors.lastname: Konstantinov
authors.forename: A D
authors.initials: AD
authors.lastname: Denisenko
authors.forename: V S
authors.initials: VS
authors.lastname: Gaitskhoki
authors.forename: E I
authors.initials: EI
authors.lastname: Schwartz
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia
chemical_list: D011973:Receptors, LDL