丙酮酸激酶中的突变
Mutations in pyruvate kinase.
作者信息
Beutler E, Baronciani L
机构信息
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
出版信息
Hum Mutat. 1996;7(1):1-6. doi: 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H.
Abstract
Pyruvate kinase (PK) deficiency due to mutations of the PKLR gene is a common cause of hereditary nonspherocytic hemolytic anemia. Thus far, 55 different mutations have been described in patients with PK-deficient hemolytic anemia. Polymorphisms within the PKLR gene and in the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may represent a balanced polymorphism.
摘要
由于PKLR基因突变导致的丙酮酸激酶（PK）缺乏是遗传性非球形细胞溶血性贫血的常见原因。迄今为止，已在PK缺乏性溶血性贫血患者中描述了55种不同的突变。PKLR基因内以及紧密连锁的葡萄糖脑苷脂酶（GBA）基因中的多态性表明，PK缺乏可能代表一种平衡多态性。
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