van den Broek W G, Hoffmann J J, Dijkman J H
Hum Genet. 1976 Sep 10;34(1):17-22. doi: 10.1007/BF00284429.
A new variant of alpha1-antitrypsin has been detected with the aid of isoelectric focusing on polyacrylamide slab gels. In contrast with many other variants this new alpha1-antitrypsin allele is found in 10-15% of the phenotypes examined. The electrophoretic properties of the new alpha1-antitrypsin variant in isofocusing polyacrylamide gels differ only slightly from the most common alpha1-antitrypsin allele M. On the basis of its electroforetic behaviour we propose the term MN to indicate this new protease inhibitor variant. The isofocusing technique employed, provides an easy to handle, very reproducible method for determining the alpha1-antitrypsin phenotype and can be employed for large scale screening.
借助聚丙烯酰胺平板凝胶等电聚焦技术,已检测到一种新型α1 - 抗胰蛋白酶变体。与许多其他变体不同,这种新型α1 - 抗胰蛋白酶等位基因在10% - 15%的检测表型中被发现。新型α1 - 抗胰蛋白酶变体在等聚焦聚丙烯酰胺凝胶中的电泳特性与最常见的α1 - 抗胰蛋白酶等位基因M仅有细微差异。基于其电泳行为,我们提出用MN来表示这种新型蛋白酶抑制剂变体。所采用的等聚焦技术为确定α1 - 抗胰蛋白酶表型提供了一种易于操作且重复性很强的方法,可用于大规模筛查。