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通过聚丙烯酰胺凝胶等电聚焦扩展人类酸性α-葡萄糖苷酶多态性

Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel.

作者信息

Nickel B E, McAlpine P J

出版信息

Ann Hum Genet. 1982 May;46(2):97-103. doi: 10.1111/j.1469-1809.1982.tb00700.x.

Abstract
  1. A method to analyse acid alpha-glucosidase (GAA) activity in human tissues by flatbed polyacrylamide gel isoelectric focusing has been devised. 2. With this method the GAA polymorphism has been extended from three to six commonly occurring phenotypes. 3. After isoelectric focusing the GAA2 isozyme migrated cathodally with respect to the GAA1 isozyme, whereas with the previous starch-gel electrophoresis method their relative positions were reversed. 4. The six common phenotypes are generated by three alleles, GAA1, GAA2 and GAA*4 with frequencies of 0.91, 0.03 and 0.06, respectively.
摘要
  1. 已设计出一种通过平板聚丙烯酰胺凝胶等电聚焦分析人体组织中酸性α-葡萄糖苷酶(GAA)活性的方法。2. 用这种方法,GAA多态性已从三种常见表型扩展到六种。3. 等电聚焦后,GAA2同工酶相对于GAA1同工酶向阴极迁移,而用之前的淀粉凝胶电泳方法时它们的相对位置相反。4. 这六种常见表型由三个等位基因GAA1、GAA2和GAA*4产生,其频率分别为0.91、0.03和0.06。

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