Karathanasis S K, Zannis V I, Breslow J L
Nature. 1983;305(5937):823-5. doi: 10.1038/305823a0.
Apolipoprotein A-I (apo A-I) is the major protein constituent of high-density lipoprotein (HDL). The study of the apo A-I gene is of interest because plasma levels of HDL have been inversely correlated with the development of coronary artery disease and because polymorphisms related to this gene have been associated with hypertriglyceridaemia and premature atherosclerosis. We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). Here we report that this polymorphism is due an at least 6.5-kilobase (kb) DNA insertion in the coding region of the apo A-I gene and that there is no detectable alteration (as determined by limited genomic blotting analysis) of the apo C-III gene of these patients.
载脂蛋白A-I（apo A-I）是高密度脂蛋白（HDL）的主要蛋白质成分。对apo A-I基因的研究备受关注，因为HDL的血浆水平与冠状动脉疾病的发生呈负相关，且该基因相关的多态性与高甘油三酯血症和早发性动脉粥样硬化有关。我们最近分离并鉴定了人类apo A-I基因，发现apo A-I和载脂蛋白C-III（apo C-III）基因在物理上是连锁的，并且在一个患病家族中，apo A-I基因的一种多态性（在普通人群中的频率未知）作为一种孟德尔性状遗传，与早发性动脉粥样硬化相关（并非先前报道的与高甘油三酯血症相关的同一多态性）。在此我们报告，这种多态性是由于apo A-I基因编码区至少6.5千碱基（kb）的DNA插入所致，并且这些患者的apo C-III基因没有可检测到的改变（通过有限的基因组印迹分析确定）。
