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阵发性睡眠性血红蛋白尿(PNH)是由于联结细胞表面蛋白的糖化肌醇磷酯(GPI)锚装配缺陷引起的一种获得性克隆性血液病。目前已知缺陷均发生于N-乙酰葡糖胺与肌醇磷脂接合水平,这与修复此类缺陷的Piga基因突变有关。作者对4例PNH的Piga基因突变作了研究。 PNH患者外周血粒细胞用磁珠法去除正常的CD59阳性细胞,经流式细胞仪证实GPI缺陷的异常细胞纯度达99％。用Northern印迹法检测Piga
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematological malignancy caused by defects in the assembly of glycosylated inositol phosphate (GPI) anchors that link cell surface proteins. Currently known defects occur in the N-acetylglucosamine and inositol phospholipid level, which is related to the repair of such defects Piga gene mutations. The authors studied 4 cases of PNH Piga gene mutation. Peripheral blood neutrophils in patients with PNH were treated with magnetic beads to remove normal CD59-positive cells. The purity of abnormal cells with GPI defects was confirmed to be 99% by flow cytometry. Piga was detected by Northern blotting