Lackner K J, Monge J C, Gregg R E, Hoeg J M, Triche T J, Law S W, Brewer H B
J Clin Invest. 1986 Dec;78(6):1707-12. doi: 10.1172/JCI112766.
The apolipoprotein B-100 (apoB-100) gene in leukocytes and the apoB-100 messenger RNA (mRNA) and translated apolipoprotein in the livers from normal and abetalipoproteinemic individuals were evaluated. Four complementary DNA probes for apoB-100 covering the 5', middle, and 3' regions of the apoB-100 mRNA were utilized and Southern blot analysis indicated that the apoB-100 gene is present in abetalipoproteinemia without major insertions or deletions. Polyadenylated hepatic apoB-100 mRNA from two abetalipoproteinemic patients was normal in size, and the concentration of apoB-100 mRNA was increased sixfold compared with control hepatic apoB-100 mRNA levels. ApoB-100 was detected in hepatocytes of abetalipoproteinemic patients by immunohistochemical techniques. These results indicate that the biochemical defect in abetalipoproteinemic patients studied is most consistent with a posttranslational defect in apoB-100 processing or secretion with an up-regulation of the apoB-100 mRNA.
对正常个体和无β脂蛋白血症个体白细胞中的载脂蛋白B - 100（apoB - 100）基因、肝脏中的apoB - 100信使核糖核酸（mRNA）以及翻译后的载脂蛋白进行了评估。使用了覆盖apoB - 100 mRNA 5'、中间和3'区域的四种apoB - 100互补DNA探针，Southern印迹分析表明apoB - 100基因在无β脂蛋白血症中存在，无主要的插入或缺失。两名无β脂蛋白血症患者的多聚腺苷酸化肝脏apoB - 100 mRNA大小正常，与对照肝脏apoB - 100 mRNA水平相比，apoB - 100 mRNA浓度增加了六倍。通过免疫组织化学技术在无β脂蛋白血症患者的肝细胞中检测到了apoB - 100。这些结果表明，所研究的无β脂蛋白血症患者的生化缺陷最符合apoB - 100加工或分泌的翻译后缺陷以及apoB - 100 mRNA的上调。
