三种红细胞丙酮酸激酶突变同工酶的生化特性：PK-“盖恩斯维尔”、PK-“圣胡安”和PK-“卡纳维拉尔角”

Biochemical characterization of three mutant isozymes of erythrocyte pyruvate kinase: PK-"Gainesville," PK-"San Juan," and PK-"Cape Canaveral".

作者信息

Paglia D E, Keitt A S, Valentine W N, Gordon S

出版信息

Am J Hematol. 1983 Jun;14(4):335-44. doi: 10.1002/ajh.2830140404.

Abstract

Pyruvate kinase was partially purified from erythrocytes of three unrelated, nonconsaguineous patients with chronic hemolytic anemia of differing clinical severities. Characterization of the defective PK isozymes by internationally standardized criteria indicated that one (PK-"Gainesville") had severely impaired substrate affinity, another (PK-"San Juan") had markedly reduced residual activity, and the third (PK-"Cape Canaveral") had a combination of milder defects. Each appears representative of subsets emerging from the heterogeneous molecular defects that make up pyruvate kinase deficiency.

摘要

丙酮酸激酶是从三名患有不同临床严重程度的慢性溶血性贫血的无血缘关系、非近亲患者的红细胞中部分纯化得到的。根据国际标准化标准对有缺陷的丙酮酸激酶同工酶进行表征，结果表明，一种（丙酮酸激酶-“盖恩斯维尔”）底物亲和力严重受损，另一种（丙酮酸激酶-“圣胡安”）残余活性明显降低，第三种（丙酮酸激酶-“卡纳维拉尔角”）存在较轻微缺陷的组合。每一种似乎都代表了构成丙酮酸激酶缺乏症的异质性分子缺陷所产生的亚组。