Gualandri V, Franceschini G, Sirtori C R, Gianfranceschi G, Orsini G B, Cerrone A, Menotti A
Am J Hum Genet. 1985 Nov;37(6):1083-97.
The AIMilano apoprotein variant is associated with a marked reduction of high density lipoprotein (HDL) cholesterol levels and with increased triglyceridemia. In spite of the low HDL-cholesterol (HDL-Ch), carriers do not generally show clinical signs of atherosclerosis. The biochemical disorder is linked to a molecular change in apoprotein AI, that is, an arg----cys substitution in the 173 position, thus allowing the formation of AIMilano-AIMilano dimers and AIMilano-AII complexes. The origin of the variant gene has been located in Limone sul Garda, a small community in Northern Italy (about 1,000 individuals). This community has a genetic, biochemical, and clinical individuality, consequent to its isolation up to a few years ago; the citizens show highly uniform alimentary habits and elevated consanguinity. The complete population of the small village was sampled, and, by the use of an analytical isoelectric focusing technique for the detection of the mutant, a total of 33 living carriers, ranging in age from 2 to 81 yrs, were identified. Analysis of the genealogic tree of the complete family groups showed that the apoprotein (apo) AIMilano is transmitted as an autosomal dominant trait, all carriers coming from a single mating couple, living in the eighteenth century. The carriers are heterozygous for the apoprotein variant.
米兰载脂蛋白变体与高密度脂蛋白（HDL）胆固醇水平显著降低及甘油三酯血症增加有关。尽管HDL胆固醇（HDL-Ch）水平较低，但携带者通常不会表现出动脉粥样硬化的临床症状。这种生化紊乱与载脂蛋白AI的分子变化有关，即在第173位发生精氨酸到半胱氨酸的替换，从而形成米兰-米兰二聚体和米兰-AII复合物。该变体基因的起源位于意大利北部的一个小社区加尔达湖畔利莫内（约1000人）。由于直到几年前该社区一直与世隔绝，因此具有遗传、生化和临床方面的独特性；居民饮食习惯高度一致且近亲结婚率高。对这个小村庄的全部人口进行了采样，并通过使用分析等电聚焦技术检测突变体，共鉴定出33名存活的携带者，年龄在2岁至81岁之间。对完整家族群体的系谱分析表明，载脂蛋白（apo）米兰以常染色体显性性状遗传，所有携带者都来自18世纪的一对夫妻。携带者为载脂蛋白变体的杂合子。
