Martin J P, Sesboue R, Charlionet R, Ropartz C
Humangenetik. 1975 Nov 6;30(2):121-5. doi: 10.1007/BF00291944.
A second case of Pi null alpha-1-antitrypsin (AA) deficiency is described. In fact, the serum's subject contains 5 mug of AA per millilitre. With radiolabelled specific antibodies, it is possible to describe the Pi phenotype associated to this deficiency. The pattern which is obtained is like the ordinary Pi M, but 500 times lower than normal values. In contrast to a common deficient variant (ZZ or MZ), the subject tissues do not contain periodic acid-schiff positive inclusion bodies. The "normal" pattern obtained after antigen-antibody crossed electrophoresis, would be in favour of a deficient anomaly hereditarily transmitted.
本文描述了第二例Pi零型α-1-抗胰蛋白酶（AA）缺乏症病例。实际上，该患者血清中每毫升含有5微克AA。利用放射性标记的特异性抗体，可以描述与这种缺乏症相关的Pi表型。所获得的模式类似于普通的Pi M型，但比正常值低500倍。与常见的缺陷变体（ZZ或MZ）不同，该患者组织中不含有过碘酸希夫阳性包涵体。抗原-抗体交叉电泳后获得的“正常”模式，支持一种遗传性传递的缺陷异常。
