Boivin P, Kahn A
Ann Biol Clin (Paris). 1976;34(1):53-62.
The search for a mechanism for red cell enzyme deficiency associated with congenital hemolytic anemia, requires one to determine the kinetic and thermodynamic properties of the enzyme reaction and study the physico-chemical and immunological characteristics of the protein which supports enzyme activity. The technique of iso-electric focalisation and the use of specific anti-enzyme antibodies, is the reason for recent progress in the understanding of the mechanism of these deficiencies. Examples of application of these techniques are given in relation to glucose-6-dehydrogenase, pyruvate kinase, glucose phosphate isomerase, phosphofructokinase and phosphoglycerate kinase of deficiencies showing the multiplicity of the molecular mechanisms.
寻找与先天性溶血性贫血相关的红细胞酶缺乏的机制，需要确定酶反应的动力学和热力学性质，并研究支持酶活性的蛋白质的物理化学和免疫学特征。等电聚焦技术和特异性抗酶抗体的使用，是近来在理解这些缺乏症机制方面取得进展的原因。针对葡萄糖-6-磷酸脱氢酶、丙酮酸激酶、磷酸葡萄糖异构酶、磷酸果糖激酶和磷酸甘油酸激酶缺乏症，给出了这些技术的应用实例，显示了分子机制的多样性。
