α1-抗胰蛋白酶缺乏症：一种检测不到α1-抗胰蛋白酶的变异型。
1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin.
作者信息
Talamo R C, Langley C E, Reed C E, Makino S
出版信息
Science. 1973 Jul 6;181(4094):70-1. doi: 10.1126/science.181.4094.70.
No alpha(1)-antitrypsin could be detected in the serum of a 24-year-old man with advanced pulmonary emphysema by agarose electrophoresis, immnuno-electrophoresis, double diffusion in agarose gel, or alpha(1)-antitrypsin genetic typing by a combination of starch-gel electrophoresis and crossed antigen-antibody electrophoresis. A circulating alpha(1)-antitrypsin inactivator could not be demonstrated. Evidence was obtained in family members of genetic transmission of this new alpha(1)-antitrypsin variant.
通过琼脂糖电泳、免疫电泳、琼脂糖凝胶双向扩散或淀粉凝胶电泳与交叉抗原抗体电泳相结合的α1-抗胰蛋白酶基因分型方法，在一名患有晚期肺气肿的24岁男性血清中均未检测到α1-抗胰蛋白酶。也未证实存在循环性α1-抗胰蛋白酶灭活剂。在家庭成员中获得了这种新的α1-抗胰蛋白酶变体遗传传递的证据。
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