Lande W M, Thiemann P V, Mentzer W C
J Clin Invest. 1982 Dec;70(6):1273-80. doi: 10.1172/jci110726.
We investigated the erythrocyte membrane proteins of two patients with congenital hemolytic anemia due to increased permeability of the erythrocyte membrane to Na and K (hereditary stomatocytosis and cryohydrocytosis). One-dimensional sodium dodecyl sulfate (SDS) gel electrophoresis resolved the band 7 erythrocyte membrane proteins into three components with approximate molecular weights of 30,000, 28,000, and 26,000. The 28,000-dalton component was decreased in both patients with permeability disorders. Two-dimensional electrophoresis (nonequilibrium pH gradient electrophoresis in the first dimension combined with SDS gel electrophoresis in the first dimension combined with SDS gel electrophoresis in the second dimension) resolved the 28,000-dalton component from normal erythrocyte membranes into two proteins with different isoelectric points, designated 22 x 8 and 60 x 8. In the patients with hereditary stomatocytosis and cryohydrocytosis, 22 x 8 was completely absent, whereas 60 x 8 was detected as usual. In contrast, all the band 7 proteins (including 22 x 8) were invariably present in a survey of normal subjects and reticulocytosis controls. The unique finding of a missing band 7 protein in the patients with hereditary stomatocytosis and cryohydrocytosis raises the possibility that the absence of this protein is responsible for the increased Na and K permeability in these disorders.
我们研究了两名先天性溶血性贫血患者的红细胞膜蛋白，这两名患者因红细胞膜对钠和钾的通透性增加（遗传性口形红细胞增多症和低温性细胞增多症）而患病。一维十二烷基硫酸钠（SDS）凝胶电泳将带7红细胞膜蛋白解析为三个组分，其近似分子量分别为30,000、28,000和26,000。在这两名通透性障碍患者中，28,000道尔顿的组分均减少。二维电泳（第一维采用非平衡pH梯度电泳，第二维结合SDS凝胶电泳）将正常红细胞膜中的28,000道尔顿组分解析为两种具有不同等电点的蛋白质，分别命名为22x8和60x8。在遗传性口形红细胞增多症和低温性细胞增多症患者中，22x8完全缺失，而60x8则如常被检测到。相比之下，在对正常受试者和网织红细胞增多症对照的调查中，所有带7蛋白（包括22x8）始终存在。遗传性口形红细胞增多症和低温性细胞增多症患者中缺失带7蛋白这一独特发现，增加了这种蛋白的缺失是这些疾病中钠和钾通透性增加的原因的可能性。
