Kyi W M, Isa M N, Rashid F A, Osman J M, Mansur M A
Department of Chemical Pathology.
Malays J Med Sci. 2000 Jan;7(1):16-21.
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.
家族性载脂蛋白B-100缺陷症（FDB）是一种常染色体显性遗传病，与高胆固醇血症和早发性冠心病相关。FDB由载脂蛋白B（apo B）基因第3500密码子及其周围的突变引起。载脂蛋白B R3500Q突变是已知的首个与FDB相关的载脂蛋白B突变，也是在几个不同人群中报道最为频繁的载脂蛋白B突变。本研究的目的是确定在高胆固醇血症和冠心病均较为常见的吉兰丹人群体中，载脂蛋白B R3500Q突变与血浆胆固醇浓度升高之间的关联。选取了62名患有高脂血症、在马来西亚理科大学吉兰丹医院血脂门诊就诊的马来族受试者进行本研究。采用基于聚合酶链反应的限制性片段分析方法，使用诱变引物对DNA样本进行分析，以检测载脂蛋白B R3500Q突变的存在。在本研究选取的受试者中未检测到该突变。载脂蛋白B R3500Q突变似乎并非吉兰丹马来人高胆固醇血症的常见病因。
