Borghini I, James R W, Pometta D
Division de diabétologie, Hôpital cantonal universitaire, Genève.
Schweiz Med Wochenschr. 1989 Dec 16;119(50):1821-4.
The diagnosis of type III hyperlipoproteinemia, or remnant disease, is greatly facilitated by the determination of the apoprotein E (apo E) phenotype. The disease is associated, in over 90% of the documented cases, with homozygosity for the E2 isoform of apo E. Phenotyping apo E directly from plasma offers certain advantages as compared to phenotyping from very low density lipoprotein samples. Elaboration of such a procedure in our laboratory allowed us to detect a rare isoform of apo E, apo E1, which was associated with remnant disease in 3 patients.
通过测定载脂蛋白E(apo E)表型,可极大地促进III型高脂蛋白血症或残余物疾病的诊断。在超过90%的已记录病例中,该疾病与apo E的E2亚型纯合性相关。与从极低密度脂蛋白样本中进行表型分析相比,直接从血浆中对apo E进行表型分析具有某些优势。我们实验室对这一程序的精心完善使我们能够检测到一种罕见的apo E亚型,即apo E1,它与3例患者的残余物疾病有关。