Scott J, Knott T J, Priestley L M, Robertson M E, Mann D V, Kostner G, Miller G J, Miller N E
Lancet. 1985 Apr 6;1(8432):771-3. doi: 10.1016/s0140-6736(85)91443-6.
25 of a group of 87 White men had Msp 1 restriction site polymorphism within an Alu sequence 3' to the human apo AII gene. Homozygosity for the polymorphism in 8 men was associated with a significant increase in serum apo AII levels (35.4 +/- 1.70 mg/dl, mean +/- SEM) and altered HDL composition, compared with heterozygotes (31.7 +/- 1.29; n = 17) and normal subjects (29.4 +/- 0.64; n = 62). This is the first account of a common variant of an HDL apoprotein gene that affects HDL composition. In view of its association with a high apo AII concentration homozygosity may protect against atherosclerosis.
在一组87名白人男性中，有25人在人类载脂蛋白AII基因3'端的Alu序列内存在Msp 1限制性酶切位点多态性。与杂合子（31.7±1.29；n = 17）和正常受试者（29.4±0.64；n = 62）相比，8名男性的该多态性纯合子与血清载脂蛋白AII水平显著升高（35.4±1.70 mg/dl，平均值±标准误）及高密度脂蛋白（HDL）组成改变有关。这是首次报道影响HDL组成的HDL载脂蛋白基因常见变异。鉴于其与高载脂蛋白AII浓度相关，纯合子可能对动脉粥样硬化具有保护作用。
