Beutler Ernest
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA, USA.
Blood. 2008 Jan 1;111(1):16-24. doi: 10.1182/blood-2007-04-077412.
Glucose-6-phosphate dehydrogenase deficiency serves as a prototype of the many human enzyme deficiencies that are now known. Since its discovery more than 50 years ago, the high prevalence of the defect and the easy accessibility of the cells that manifest it have made it a favorite tool of biochemists, epidemiologists, geneticists, and molecular biologists as well as clinicians. In this brief historical review, we trace the discovery of this defect, its clinical manifestations, detection, population genetics, and molecular biology.
葡萄糖-6-磷酸脱氢酶缺乏症是目前已知的多种人类酶缺乏症的一个典型例子。自50多年前被发现以来,该缺陷的高患病率以及表现出该缺陷的细胞易于获取,使其成为生物化学家、流行病学家、遗传学家、分子生物学家以及临床医生喜爱的研究工具。在这篇简短的历史回顾中,我们追溯了这种缺陷的发现过程、其临床表现、检测方法、群体遗传学以及分子生物学。