title: Two novel slavic point mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia.
abstract: Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5' end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations.
authors.affiliation: Laboratory of Human Molecular Genetics, Petersburg Nuclear Physics Institute, Russian Academy of Sciences, Gatchina, Russia.
authors.forename: Kh
authors.initials: Kh
authors.lastname: Chakir
authors.forename: N A
authors.initials: NA
authors.lastname: Skobeleva
authors.forename: S P
authors.initials: SP
authors.lastname: Shevtsov
authors.forename: V O
authors.initials: VO
authors.lastname: Konstantinov
authors.forename: A D
authors.initials: AD
authors.lastname: Denisenko
authors.forename: E I
authors.initials: EI
authors.lastname: Schwartz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia; D017422:Sequence Analysis, DNA
chemical_list: D011973:Receptors, LDL