title: Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.
abstract: In this study we have performed analyses of apolipoprotein (apo) B at both the protein and gene level to search for mutations of the apoB gene causing hypocholesterolemia among 71 Norwegian subjects. None of the subjects possessed apoB of abnormal molecular weight as determined by SDS-polyacrylamide gel electrophoresis of lipoproteins in the 1.025 g/ml-1.063 g/ml density range. Screening for mutations in exon 26 of the apoB gene by analysis of single-strand conformation polymorphisms followed by DNA sequencing, revealed seven point mutations of which one is a novel mutation. Five of the mutations were missense mutations and two were sense mutations. A group of 143 hypercholesterolemic, nonfamilial hypercholesterolemia subjects served as a control group for comparisons of gene frequencies. The only statistically significant finding was that mutation 8344T at codon 2712 was more common among those with hypocholesterolemia. This finding is in accord with previous reports.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway. trond.leren@basalmed.uio.no
authors.forename: T P
authors.initials: TP
authors.lastname: Leren
authors.forename: K S
authors.initials: KS
authors.lastname: Bakken
authors.forename: V
authors.initials: V
authors.lastname: Hoel
authors.forename: I
authors.initials: I
authors.lastname: Hjermann
authors.forename: K
authors.initials: K
authors.lastname: Berg
mesh_terms: D000328:Adult; D000483:Alleles; D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D002784:Cholesterol / Q000097:blood* / Q000172:deficiency / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D008077:Lipoproteins, LDL / Q000097:blood / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D001055:Apolipoproteins B; D008077:Lipoproteins, LDL; D002784:Cholesterol