Utermann G, Canzler H, Hees M, Jaeschke M, Mühlfellner G, Schoenborn W, Vogelberg K H
Clin Genet. 1977 Sep;12(3):139-54. doi: 10.1111/j.1399-0004.1977.tb00917.x.
The apoprotein composition of the main lipoprotein fractions (VLDL, LDL-1, LDL-2 and HDL) was studied initially in 15 patients with Broad-beta disease. Analytical isoelectric focusing of urea-soluble apo-VLDL and apo LSL-1 demonstrated a variant pattern of the polymorphic Apoprotein E with a deficient Apo E-III band in all patients. The Apo E-III deficiency pattern was seen in only six out of 304 hyperlipidaemic controls. These six Apo E-III deficient controls had characteristic signs of Broad-beta disease, and thus represented patients not previously recognized as having the disorder. The Apo E focusing patterns were constant on repeated examinations and were stable under different metabolic conditions. The data show that Apo E-III deficiency in VLDL is a specific qualitative marker for Broad-beta disease, allowing an unequivocal diagnosis that had not been possible previously. Indirect evidence suggests that Apo E-III deficiency is the basic lipoprotein abnormality underlying the familial dyslipoproteinaemia.
最初在15例宽β病患者中研究了主要脂蛋白组分（极低密度脂蛋白、低密度脂蛋白-1、低密度脂蛋白-2和高密度脂蛋白）的载脂蛋白组成。对尿素可溶性载脂蛋白极低密度脂蛋白和载脂蛋白LSL-1进行分析性等电聚焦，结果显示所有患者中多态性载脂蛋白E呈现变异模式，载脂蛋白E-Ⅲ条带缺失。在304例高脂血症对照者中，仅6例出现载脂蛋白E-Ⅲ缺失模式。这6例载脂蛋白E-Ⅲ缺失的对照者具有宽β病的特征性体征，因此代表了先前未被识别患有该疾病的患者。载脂蛋白E聚焦模式在重复检查时恒定，且在不同代谢条件下稳定。数据表明，极低密度脂蛋白中载脂蛋白E-Ⅲ缺失是宽β病的特异性定性标志物，可实现此前无法明确的诊断。间接证据表明，载脂蛋白E-Ⅲ缺失是家族性异常脂蛋白血症潜在的基本脂蛋白异常。
