葡萄糖磷酸异构酶（GPI）“莫尔科内”：一种来自意大利的新变体。

Glucose phosphate isomerase (GPI) "Morcone": a new variant from Italy.

作者信息

Alfinito F, Ferraro F, Rocco S, De Vendittis E, Piccirillo G, Sementa A, Colombo M B, Zanella A, Rotoli B

机构信息

Division of Haematology, Federico II University of Naples Medical School, Italy.

出版信息

Eur J Haematol. 1994 May;52(5):263-6. doi: 10.1111/j.1600-0609.1994.tb00094.x.

DOI:10.1111/j.1600-0609.1994.tb00094.x

PMID:8020625

Abstract

Here we report the 4th Italian case of glucose phosphate isomerase (GPI) deficiency. The propositus is a young man suffering from chronic haemolytic anaemia since birth with occasional transfusion requirement. Biochemical characterization of the defective enzyme revealed increased affinity for F-6-P, decreased affinity for G-6-P and marked thermoinstability. Electrophoretic mobility appeared normal. GPI from both parents showed similar but less pronounced biochemical alterations. The variant described here seems to be different from those previously reported. Thus, we propose the provisional name of GPI "Morcone".

摘要

在此我们报告第4例意大利葡萄糖磷酸异构酶（GPI）缺乏症病例。患者为一名自出生起就患有慢性溶血性贫血且偶尔需要输血的年轻男性。对缺陷酶的生化特性分析显示，其对6-磷酸果糖（F-6-P）的亲和力增加，对6-磷酸葡萄糖（G-6-P）的亲和力降低，且具有明显的热不稳定性。电泳迁移率看起来正常。来自双亲的GPI显示出相似但不太明显的生化改变。此处描述的变异型似乎与先前报道的不同。因此，我们提议将该GPI暂时命名为“莫尔科内（Morcone）”。