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日本人正常脂蛋白血症和高脂蛋白血症的载脂蛋白E表型

Apolipoprotein E phenotypes of normo- and hyperlipoproteinemia in Japanese.

作者信息

Sano R, Abe R, Oikawa S, Fujii Y, Hori S, Suzuki N, Toyota T, Goto Y

机构信息

Third Department of Internal Medicine, Tohoku University School of Medicine, Sendai.

出版信息

Tohoku J Exp Med. 1988 Mar;154(3):297-303. doi: 10.1620/tjem.154.297.

Abstract

Apolipoprotein E phenotypes of normo- and hyperlipoproteinemia in Japanese were examined by the disc gel isoelectric focusing technique, which was modified according to the method of Kashyap et al. (1981). Apoprotein E isoproteins were clearly separated by this method. Six phenotypes (E2/2, E3/3, E4/4, E2/3, E2/4 and E3/4) were determined in 107 cases of normolipoproteinemia and 75 cases of hyperlipoproteinemia. In normolipoproteinemia, apoE phenotype frequencies were similar to those of the Japanese and Caucasian populations which were reported previously. In hyperlipoproteinemia, a higher frequency of phenotype E2/2 and a lower frequency of E3/3 were observed. The apo E phenotypes of type IIa and IIb were distributed similarly to that of normal subjects. In contrast, only 27.8% of type IV patients had E3/3 phenotype. Among type V patients 64.3% was homozygous or heterozygous for E-4, and only 14.3% was homozygous for E-3 (E3/3). The results suggest that the apolipoprotein E phenotypes are similarly distributed among different human races and the apolipoprotein E phenotypes could be one of the etiological factors associated with some types of hyperlipoproteinemia.

摘要

采用根据卡什亚普等人(1981年)的方法改良的圆盘凝胶等电聚焦技术,对日本正常血脂血症和高脂蛋白血症患者的载脂蛋白E表型进行了检测。通过这种方法可以清晰地分离出载脂蛋白E同工蛋白。在107例正常血脂血症患者和75例高脂蛋白血症患者中确定了六种表型(E2/2、E3/3、E4/4、E2/3、E2/4和E3/4)。在正常血脂血症中,载脂蛋白E表型频率与先前报道的日本人和高加索人群的频率相似。在高脂蛋白血症中,观察到E2/2表型频率较高,E3/3表型频率较低。IIa型和IIb型的载脂蛋白E表型分布与正常受试者相似。相比之下,IV型患者中只有27.8%具有E3/3表型。在V型患者中,64.3%为E-4纯合子或杂合子,只有14.3%为E-3纯合子(E3/3)。结果表明,载脂蛋白E表型在不同人种中分布相似,且载脂蛋白E表型可能是某些类型高脂蛋白血症的病因之一。

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