Clemetson K J, McGregor J L, James E, Dechavanne M, Lüscher E F
J Clin Invest. 1982 Aug;70(2):304-11. doi: 10.1172/jci110618.
The platelets from three patients with Bernard-Soulier syndrome have been analyzed by surface-labeling coupled with two-dimensional gel electrophoresis and compared with normals. As well as the previously described absence or deficiency in glycoprotein (GP) Ib(alpha) it could be shown that GP Ib beta and an additional low molecular weight glycoprotein GP17 were not detectable using carbohydrate-labeling methods or deficient to the same extent as the GPIb alpha subunit. In addition, the thrombin cleavable glycoprotein could not be detected using carbohydrate-labeling methods in two patients and was deficient in a third. This finding was confirmed in a fourth patient by one-dimensional gel electrophoresis. Thus, the changes in the membrane of Bernard-Soulier platelets are more complex than previously thought.
通过表面标记结合二维凝胶电泳对三名伯纳德-苏利耶综合征患者的血小板进行了分析，并与正常人进行了比较。除了先前描述的糖蛋白（GP）Ib（α）缺失或缺乏外，还发现使用碳水化合物标记方法无法检测到GP Ibβ和另一种低分子量糖蛋白GP17，或者它们的缺乏程度与GPIbα亚基相同。此外，在两名患者中使用碳水化合物标记方法未检测到凝血酶可裂解糖蛋白，第三名患者中该糖蛋白缺乏。第四名患者通过一维凝胶电泳证实了这一发现。因此，伯纳德-苏利耶血小板膜的变化比以前认为的更为复杂。
