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人类载脂蛋白A-IV多态性

Apolipoprotein A-IV polymorphism in man.

作者信息

Menzel H J, Kövary P M, Assmann G

出版信息

Hum Genet. 1982;62(4):349-52. doi: 10.1007/BF00304554.

Abstract

In man, apolipoprotein A-IV is characterized by a genetically determined polymorphism controlled by two codominant alleles. Two isoforms of this apolipoprotein, designated A-IV-1 and A-IV-2, can be identified by isoelectric focusing. Among 1000 healthy factory workers participating in an epidemiological study, A-IV-1 (genotype 1-1) was observed in 85%; A-IV-2 (genotype 2-2), in 0.5%; and A-IV-1 in combination with A-IV-2 (genotype 1-2), in 14%. In four nonrelated subjects, an apolipoprotein A-IV variant (A-IV-Münster), characterized by a slightly more basic isoelectric focusing behavior than A-IV-2, was detected in combination either with A-IV-1 or A-IV-2. Mendelian inheritance of this variant could be demonstrated.

摘要

在人类中,载脂蛋白A-IV具有由两个共显性等位基因控制的遗传决定的多态性。通过等电聚焦可识别出这种载脂蛋白的两种亚型,分别命名为A-IV-1和A-IV-2。在参与一项流行病学研究的1000名健康工厂工人中,85%的人观察到A-IV-1(基因型1-1);0.5%的人观察到A-IV-2(基因型2-2);14%的人观察到A-IV-1与A-IV-2组合(基因型1-2)。在4名无亲缘关系的受试者中,检测到一种载脂蛋白A-IV变体(A-IV-明斯特),其等电聚焦行为比A-IV-2略偏碱性,它与A-IV-1或A-IV-2组合出现。该变体的孟德尔遗传方式得以证实。

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