Apolipoprotein B gene polymorphisms in people in the East Mediterranean area of Turkey

ABSTRACT

Point mutations in the receptor binding domain of low density lipoprotein may increase cholesterol levels in blood. Three mutations of Apo B-100 protein result in defective binding [Arg 3500 ----> [corrected] Gln, Arg 3500 ----> [corrected] Trp and Arg 3531 ----> [corrected] Cys]. We estimated the frequency of Apo B point mutations [codon 3500] C9774T [Arg 3500 ----> [corrected] Trp] and G9775A [Arg 3500 ----> [corrected] Gln] in 179 atherosclerotic, 145 hyperlipidaemic individuals and 272 healthy individuals in the east Mediterranean region of Turkey. Lipid and lipoprotein levels were measured with routine biochemical analyser and Apo B mutation was detected using real-time PCR. Neither mutation was found. In this region, Apo B-100 protein mutations are rare and causes of hyperlipidaemia and atherosclerosis may therefore be unrelated to them