Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin.
Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin.
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发表时间：
1987-10
影响因子：
9.8
通讯作者：
M. Kamboh;R. Ferrell
中科院分区：
文献类型：
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作者：
M. Kamboh;R. Ferrell
本文设计了一种在3 M尿素中进行分析等电聚焦并进行免疫印迹的方法，用于检测人血浆或血清中糖蛋白血红素（HPX）的遗传和生化变化。HPX显示出广泛的微观异质性，有多种主要和次要成分易受神经氨酸酶处理，这表明所观察到的生化变化是由于HPX同工蛋白之间唾液酸含量的差异。然而，神经氨酸酶治疗后HPX同工蛋白中持续存在的电荷差异表明存在遗传决定的HPX变异，这被人群和家庭研究证实。在美国白人中发现HPX是单态的，具有不变的模式；但它在美国黑人中是多态的，有三个等位基因由一个位点控制，这种情况表明了常染色体共显性遗传模式。美国黑人的HPX 1， HPX 2和HPX 3等位基因频率为。941年,。018，和。041年,分别。
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.