Absence of APO B R3500Q Mutation Amon Kelantanese Malays with Hyperlipidaemia
Win, Mar Kyi and Mohd. Nizam Isa, and Faridah Abdul Rashid, and Jama’ayah Meor Osman, and Mazidah Ahmad Mansur, (2000) Absence of APO B R3500Q Mutation Amon Kelantanese Malays with Hyperlipidaemia. Malaysian Journal of Medical Sciences, 7 (1). pp. 16-21. ISSN 1394195X
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Official URL: http://www.medic.usm.my/publication/mjms/
Universiti Sains Malaysia, School of Medical Sciences, Dept. of Chemical Pathology
Universiti Sains Malaysia, School of Medical Sciences, Human Genome Center
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.
|Additional Information:||This study was supported by U.S.M. short-term grant (No.331/0500/3096) under the supervision of Dr Mazidah
Ahmad Mansur. Dr Peter George and Dr Clive R. Pullinger provided the DNA samples from patients with heterozygous apo BR3500Q mutation.|
|Keywords:||Familial defective apolipoprotein B-100, apo B mutations, hypercholesterolaemia|
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