title: Absence of Apo B R3500Q Mutation among Kelantanese Malays with Hyperlipidaemia.
abstract: Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder associated with hypercholesterolaemia and premature coronary heart disease. FDB is caused by mutations in and around the codon 3500 of the apolipoprotein B (apo B) gene. Apo B R3500Q mutation is the first apo B mutation known to be associated with FDB and it is the most frequently reported apo B mutation in several different populations. The objective of the present study was to determine the association of apo B R3500Q mutation with elevated plasma cholesterol concentration in Kelantanese population in which both hypercholesterolaemia and coronary heart disease are common. Sixty-two Malay subjects with hyperlipidaemia, attending the lipid clinic at Hospital Universiti Sains Malaysia, Kelantan, were selected for this study. The DNA samples were analysed for the presence of apo B R3500Q mutation by polymerase chain reaction-based restriction fragment analysis method using mutagenic primers. This mutation was not detected in the subjects selected for this study. Apo B R3500Q mutation does not appear to be a common cause of hypercholesterolaemia in Kelantanese Malays.
authors: Department of Chemical Pathology.
authors: W M
authors: WM
authors: Kyi
authors: M N
authors: MN
authors: Isa
authors: F A
authors: FA
authors: Rashid
authors: J M
authors: JM
authors: Osman
authors: M A
authors: MA
authors: Mansur