Genetic studies of low-abundance human plasma proteins. IV. Improved typing of alpha-1 acid glycoprotein (orosomucoid) by isoelectric focusing and immunoblotting.
Genetic studies of low-abundance human plasma proteins. IV. Improved typing of alpha-1 acid glycoprotein (orosomucoid) by isoelectric focusing and immunoblotting.
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低丰度人类血浆蛋白的遗传学研究。
DOI：
10.1159/000153721
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发表时间：
1987
期刊：
影响因子：
1.8
通讯作者：
Kamboh,MI
中科院分区：
文献类型：
--
作者：
Escallon,MH;Ferrell,RE;Kamboh,MI
等电聚焦 (IEF) 和免疫印迹的敏感性和特异性已结合用于血浆蛋白 α-1 酸性糖蛋白（Orosomucoid，ORM）的常规分型。已经确定了对不同 ORM 表型进行可靠分类的优化条件。简单 IEF 凝胶中 ORM 的表型模式与其他技术观察到的一致。在薄层 IEF 凝胶中添加 6 Murea 揭示了 ORM 系统中额外的、信息丰富的微观异质性，这是在简单的 IEF 凝胶中无法检测到的。应用改进的方法，对 239 名美国白人和 181 名美国黑人进行了筛选，以确定 ORM 等位基因频率的分布。已观察到两个常见等位基因ORM*1和ORM*2，它们在白人和黑人中的频率分别为0.5592和0.4408，以及0.6160和0.3840。家族研究证实了这种变异的遗传基础，它与常染色体共显性遗传相一致。
The sensitivity and specificity of isoelectric focusing (IEF) and immunoblotting have been combined for the routine typing of the plasma protein alpha-1 acid glycoprotein (Orosomucoid, ORM). Optimized conditions have been determined for a reliable classification of different ORM phenotypes. Phenotypic patterns of ORM in simple IEF gels correspond to those observed by other techniques. Addition of 6 Murea in a thin-layer IEF gel revealed additional, informative microheterogeneity in the ORM system, which cannot be detected in simple IEF gels. Applying the improved method, 239 White and 181 Black Americans have been screened to determine the distribution of ORM allele frequencies. Two common alleles,ORM*1andORM*2, have been observed and their frequencies are 0.5592 and 0.4408, and 0.6160 and 0.3840 in Whites and Blacks, respectively. Family studies confirm the genetic basis of this variation which is compatible with autosomal, codominant inheritance.