嘧啶5'-核苷酸酶缺乏的人红细胞的电泳和动力学研究。

Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase.

作者信息

Ishida Y, Miwa S, Miura Y, Kibe A

出版信息

Clin Chim Acta. 1980 Dec 8;108(2):285-91. doi: 10.1016/0009-8981(80)90015-7.

Abstract

A new variant of hereditary hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency was found in Japan. Biochemical parameters such as the Michaelis constant, thermostability, electrophoresis and pH curve were studied. The variant showed a high Michaelis constant for cytidine 5'-monophosphate, no thermolability, slower electrophoretic mobility and abnormal optimum pH. The results strongly suggest that the mechanism of this enzyme deficiency is due to a structural gene mutation.

摘要

在日本发现了一种由于红细胞嘧啶5'-核苷酸酶缺乏引起的遗传性溶血性贫血的新变体。对诸如米氏常数、热稳定性、电泳和pH曲线等生化参数进行了研究。该变体对胞苷5'-单磷酸表现出高米氏常数，无热不稳定性，电泳迁移率较慢且最佳pH异常。结果强烈表明这种酶缺乏的机制是由于结构基因突变。