Leren T P, Berg K, Hjermann I, Leren P
Department of Medical Genetics, City of Oslo, Norway.
Clin Genet. 1988 Dec;34(6):347-51. doi: 10.1111/j.1399-0004.1988.tb02892.x.
Subjects with non-familial hypercholesterolemia who were homozygous for absence of an XbaI restriction site in the apolipoprotein B gene (genotype X2X2) had significantly lower values of apolipoprotein B than those possessing the site. Our data are in agreement with those of Berg (1986) and Law et al. (1986) indicating that X2X2 homozygotes have lower levels of apolipoprotein B, total serum cholesterol, triglycerides and LDL cholesterol. The mechanism underlying this effect is unknown, but could reflect different LDL metabolism between subjects with different genotypes.
在载脂蛋白B基因中缺乏XbaI限制酶切位点的纯合子（基因型X2X2）的非家族性高胆固醇血症患者，其载脂蛋白B值显著低于具有该位点的患者。我们的数据与Berg（1986年）和Law等人（1986年）的数据一致，表明X2X2纯合子的载脂蛋白B、总血清胆固醇、甘油三酯和低密度脂蛋白胆固醇水平较低。这种效应的潜在机制尚不清楚，但可能反映了不同基因型受试者之间低密度脂蛋白代谢的差异。
