家族性载脂蛋白B_(100)缺陷症是由于载脂蛋白B基因发生突变,第26外显子10,708位G—A,使载脂蛋白B3500位精氨酸被谷氨酰胺取代。这种改变使载脂蛋白B对低密度脂蛋白结合力显著下降,导致血浆低密度脂蛋白由受体介导的代谢途径受阻,并在血浆中大量堆积,这是另一类诱发高胆固醇血症和早发冠心病的主要因素。 Familial apolipoprotein B (100) deficiency is due to a mutation of the apolipoprotein B gene, G-A at position 10,708 of exon 26, which results in the substitution of arginine at position 3500 of apoprotein with glutamine. This change causes a significant decrease in the binding of apolipoprotein B to low density lipoproteins, resulting in obstruction of the plasma-mediated metabolism of low-density lipoproteins in plasma and massive accumulation in plasma, another group of agents that induce hypercholesterolemia Symptoms and premature coronary heart disease are the main factors.