title: Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.
abstract: Familial defective apolipoprotein B-100 (FDB) R3500Q is an autosomal co-dominant disorder caused by the substitution of glutamine for arginine at amino acid residue 3500 of the apolipoprotein B-100 gene. It is associated with hypercholesterolaemia of varying severity, and with coronary artery disease. Hypercholesterolaemic patients (n = 158) from Northern Ireland were screened for the defect by polymerase chain reaction-mediated, site-directed mutagenesis. Clinical presentation ranged from moderate hypercholesterolaemia with a family history of hypercholesterolaemia or heart disease (n = 104) to those classified as definitely having familial hypercholesterolaemia (FH) (n = 54). Eight (5.1%) unrelated individuals were found to be heterozygous for the FDB R3500Q mutation, including two (3.7%) of those 54 classified clinically as having FH. Treatment with HMG-CoA-reductase-inhibiting drugs (statins) decreased total cholesterol by 22-44% and low-density lipoprotein cholesterol by 34-46% in all but one FDB heterozygote.
authors.affiliation: Clinical Chemistry Department, Belfast City Hospital, Northern Ireland, UK.
authors.forename: E
authors.initials: E
authors.lastname: McClean
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
authors.forename: A J
authors.initials: AJ
authors.lastname: Ward
authors.forename: I S
authors.initials: IS
authors.lastname: Young
authors.forename: S
authors.initials: S
authors.lastname: Martin
authors.forename: D P
authors.initials: DP
authors.lastname: Nicholls
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008078:Cholesterol, LDL