title: Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol.
abstract: Familial defective apolipoprotein B-100 is a genetic disorder which is associated with elevated plasma LDL levels. It appears to result from a G----A mutation at nucleotide 10,708 in exon 26 of the apolipoprotein B-100 gene leading to a substitution of glutamine for arginine at amino acid residue 3500. We explored the possible role of this point mutation as a cause of elevated plasma cholesterol among the Finns, a genetically isolated population in which both hypercholesterolemia and coronary heart disease are common: 552 hyperlipidemic patients from Western and Southern Finland were screened either by assaying patient sera with monoclonal antibody MB47 or by amplifying the region of the apo B gene containing the nucleotide 10,708 followed by hybridization of the amplified DNA with allele-specific oligonucleotide probes. Not a single individual with this particular mutation could be found. We conclude that familial defective apo B-100 is not a common cause of elevated plasma cholesterol in this population.
authors.affiliation: First Department of Medicine, University of Helsinki, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Hämäläinen
authors.forename: A
authors.initials: A
authors.lastname: Palotie
authors.forename: K
authors.initials: K
authors.lastname: Aalto-Setälä
authors.forename: K
authors.initials: K
authors.lastname: Kontula
authors.forename: M J
authors.initials: MJ
authors.lastname: Tikkanen
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006579:Heterozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood*; D006938:Hyperlipoproteinemia Type II / Q000097:blood; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008055:Lipids; D008074:Lipoproteins; D004247:DNA