Malgaretti N, Acquati F, Magnaghi P, Bruno L, Pontoglio M, Rocchi M, Saccone S, Della Valle G, D'Urso M, LePaslier D
Istituto San Raffaele, Milano, Italy.
Proc Natl Acad Sci U S A. 1992 Dec 1;89(23):11584-8. doi: 10.1073/pnas.89.23.11584.
The apoprotein(a) [apo(a)] gene encodes a protein component of the circulating lipoprotein(a) [Lp(a)]. The apo(a) gene is highly homologous to the plasminogen gene. It encodes one of the most polymorphic human proteins, due to variability in the number of repetitions of structures called kringles. In addition, Lp(a) levels vary among individuals by more than two orders of magnitude, the high levels being highly correlated with predisposition to early atherosclerotic disease. To better understand the genetics and function of the apo(a) gene, we have cloned in yeast artificial chromosome vectors DNA fragments comprising the linked apo(a) and plasminogen genes and other members of the plasminogen family. By a combination of pulsed-field gel electrophoresis and genome walking experiments, we have identified the 5' portion and flanking regions of the apo(a) gene.
载脂蛋白(a)[apo(a)]基因编码循环脂蛋白(a)[Lp(a)]的一种蛋白质成分。apo(a)基因与纤溶酶原基因高度同源。由于称为kringle的结构重复次数的变异性，它编码人类最具多态性的蛋白质之一。此外，个体间Lp(a)水平的差异超过两个数量级，高水平与早期动脉粥样硬化疾病的易感性高度相关。为了更好地理解apo(a)基因的遗传学和功能，我们已将包含相连的apo(a)和纤溶酶原基因以及纤溶酶原家族其他成员的DNA片段克隆到酵母人工染色体载体中。通过脉冲场凝胶电泳和基因组步移实验相结合，我们确定了apo(a)基因的5'部分和侧翼区域。
