A GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT, GD(-) SANTAMARIA FOUND IN COSTA-RICA
A GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT, GD(-) SANTAMARIA FOUND IN COSTA-RICA
复制标题
DOI：
10.1159/000206354
复制
发表时间：
1984-01-01
影响因子：
2.4
通讯作者：
YOSHIDA, A
中科院分区：
文献类型：
--
作者：
SAENZ, GF;CHAVES, M;YOSHIDA, A
红细胞葡萄糖-6-磷酸脱氢酶（G6 PD）缺乏症是一种X染色体连锁异常，常与溶血性贫血有关。对从2名无关男性获得的G6 PD变体进行了检查，其中一名与酶缺乏和溶血性黄疸病史相关，另一名与酶缺乏相关但无溶血问题。虽然这2个受试者没有已知的血缘关系，但这2种酶在电泳迁移率和动力学性质方面不能相互区分，它们都表现出比正常阳极电泳迁移率慢，对G6 P和NADP的Km较低，对2-deoxy-G6 P和deamino-NADP的利用率较高。在pH7.0和pH8.6的淀粉凝胶电泳中观察到独特的双带模式。该变体与所有报道的Gd变体不同，其被命名为Gd（-）Santamaria。
Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosomal-linked abnormality often associated with hemolytic anemia. The G6PD variants obtained from 2 unrelated males, one associated with enzyme deficiency and history of hemolytic jaundice, and the other associated with enzyme deficiency but no hemolytic problems, were examined. Although the 2 subjects have no known consanguinity, the 2 enzymes could not be distinguished from each other in respect to their electrophoretic mobilities and kinetic properties, both exhibiting slower than normal anodal electrophoretic mobility, lower Km for G6P and NADP and higher rate of utilization of 2-deoxy-G6P and deamino-NADP. An unique double-banded pattern was observed in starch gel electrophoresis at pH 7.0 and pH 8.6. The variant is distinguished from all reported Gd variants, and its is designated Gd(-) Santamaria.