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通过血清二维高分辨率凝胶电泳研究的载脂蛋白E多态性。

The apoE polymorphism studied by two-dimensional, high-resolution gel electrophoresis of serum.

作者信息

Børresen A L, Berg K

出版信息

Clin Genet. 1981 Dec;20(6):438-48. doi: 10.1111/j.1399-0004.1981.tb01055.x.

Abstract

The apoE polymorphism of human very low density lipoprotein (VLDL) was studied by the two-dimensional high-resolution gel electrophoresis technique of O'Farrell, which combines isoelectric focusing and SDA-polyacrylamide gel electrophoresis. With whole serum, six major patterns and two "sub-variants" of apoE were observed. A series of twin pairs (21 monozygotic (MZ) and 13 dizygotic (DZ) pairs) as well as unrelated people were analyzed. both members of MZ pairs always exhibited the same pattern, whereas DZ twins were often discordant. The patterns observed would be consistent with the hypothesis that three apoE isopeptides are coded for by three different alleles at one single locus. In this small series, all three postulated homozygous patterns, namely apoE-II, apoE-III and apoE-IV as well as the three heterozygous patterns apoE-II,III; apoE-III,IV and apoE-II,IV were seen.

摘要

采用奥法雷尔的二维高分辨率凝胶电泳技术(该技术结合了等电聚焦和十二烷基硫酸钠-聚丙烯酰胺凝胶电泳)对人极低密度脂蛋白(VLDL)的载脂蛋白E多态性进行了研究。用全血清观察到了载脂蛋白E的六种主要模式和两种“亚变体”。对一系列双胞胎对(21对同卵双胞胎(MZ)和13对异卵双胞胎(DZ))以及无关个体进行了分析。同卵双胞胎的两个成员总是表现出相同的模式,而异卵双胞胎则常常不一致。观察到的模式与以下假设一致:在一个单一基因座上,三个不同的等位基因编码三种载脂蛋白E同工肽。在这个小样本中,观察到了所有三种假定的纯合模式,即载脂蛋白E-II、载脂蛋白E-III和载脂蛋白E-IV,以及三种杂合模式,即载脂蛋白E-II,III;载脂蛋白E-III,IV和载脂蛋白E-II,IV。

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