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低丰度人类血浆蛋白的遗传学研究。VI. 血红素结合蛋白的多态性。

Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin.

作者信息

Kamboh M I, Ferrell R E

机构信息

Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, PA 15261.

出版信息

Am J Hum Genet. 1987 Oct;41(4):645-53.

Abstract

An analytical isoelectric focusing method in 3 M urea followed by immunoblotting has been devised to detect genetic and biochemical variation in the glycoprotein hemopexin (HPX) in human plasma or serum. HPX reveals extensive microheterogeneity with multiple major and minor components that are susceptible to neuraminidase treatment, suggesting that the observed biochemical variation is due to differences in sialic acid content between HPX isoproteins. However, charge differences that persist in HPX isoproteins following neuraminidase treatment suggest the presence of genetically determined HPX variation, and this is confirmed by population and family studies. HPX was found to be monomorphic, with an invariant pattern, in U.S. whites; but it is polymorphic in U.S. blacks, with three alleles controlled by a single locus, a situation that demonstrates an autosomal codominant pattern of inheritance. The HPX 1, HPX 2, and HPX 3 allele frequencies in U.S. blacks are .941, .018, and .041, respectively.

摘要

已设计出一种在3M尿素中进行分析性等电聚焦,随后进行免疫印迹的方法,以检测人血浆或血清中糖蛋白血红素结合蛋白(HPX)的遗传和生化变异。HPX显示出广泛的微异质性,有多个主要和次要成分,这些成分对神经氨酸酶处理敏感,这表明观察到的生化变异是由于HPX同工蛋白之间唾液酸含量的差异。然而,神经氨酸酶处理后HPX同工蛋白中持续存在的电荷差异表明存在由基因决定的HPX变异,群体和家族研究证实了这一点。在美国白人中,HPX被发现是单态的,具有不变的模式;但在美国黑人中它是多态的,由一个单一位点控制三个等位基因,这种情况显示出常染色体共显性遗传模式。在美国黑人中,HPX 1、HPX 2和HPX 3等位基因频率分别为0.941、0.018和0.041。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88cb/1684324/7b76cd5b8d2e/ajhg00133-0136-a.jpg

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