White James G, Burris Steven M
Department of Laboratory Medicine, University of Minnesota School of Medicine, Minneapolis, MN, USA.
Platelets. 2008 Nov;19(7):543-50. doi: 10.1080/09537100802275934.
An X-linked mutation in the GATA-1 transcription factor, G208S, causes macrothrombocytopenia and serious bleeding problems in affected male family members. The unique ultrastructural pathology of their platelets was described previously. The present investigation has evaluated the cytoskeletal proteins of the GATA-1, G208S macrothrombocytes of two male patients by page gel electrophoresis and Western blot analysis. The 235-245 KD cytoskeletal protein, Talin, was absent from their (PAGE) gels and undetectable by a specific talin antibody on Western blots.
GATA-1转录因子中的一种X连锁突变G208S，会在受影响的男性家庭成员中导致巨血小板减少症和严重的出血问题。此前已描述了其血小板独特的超微结构病理学特征。本研究通过聚丙烯酰胺凝胶电泳和蛋白质免疫印迹分析，对两名男性患者的GATA-1 G208S巨血小板的细胞骨架蛋白进行了评估。在他们的聚丙烯酰胺凝胶中未出现235 - 245千道尔顿的细胞骨架蛋白踝蛋白，并且在蛋白质免疫印迹中用特异性踝蛋白抗体无法检测到该蛋白。
