Nurden A T, Didry D, Rosa J P
Blood Cells. 1983;9(2):333-58.
In 1969, it was shown that platelets of patients with Bernard-Soulier (B-S) syndrome exhibited an altered electrophoretic mobility arising from a surface membrane sialic acid deficiency. Subsequent studies showed that a major membrane glycoprotein, GP Ib, was either deleted, reduced in concentration, or structurally modified in B-S platelets. Controversy persists, however, as to the specificity of the defect in platelets of different patients, especially with regard to studies performed on patients in different laboratories. We have now studied platelets from six patients, and during these studies have analyzed the platelet proteins and glycoproteins by single and two-dimensional SDS-PAGE or by crossed immunoelectrophoresis. The surface proteins of the platelets of different patients have been radiolabelled with 3H or 125I. Our studies point to the deletion or severe reduction in concentration of GPIb alpha and Ib beta in the platelets of five patients, detectable but reduced levels of Ib were present in the platelets of the other patient. Studies using 3H-labelled glycoproteins suggest that mol.wt. 82,000 (GP V) and mol.wt. 17,000 glycoproteins are also missing or abnormal. The relationship between these additional defects and the major GP Ib lesion remains to be determined. It should be emphasized that these are membrane abnormalities, no alpha-granule or cyto-plasmic protein deficiencies have been located in B-S platelets.
1969年，研究表明，伯纳德 - 索利尔（B - S）综合征患者的血小板由于表面膜唾液酸缺乏而表现出电泳迁移率改变。随后的研究表明，一种主要的膜糖蛋白，即糖蛋白Ib（GP Ib），在B - S血小板中要么缺失、浓度降低，要么结构发生改变。然而，关于不同患者血小板缺陷的特异性仍存在争议，特别是在不同实验室对患者进行的研究方面。我们现在研究了6名患者的血小板，并在这些研究中通过单向和双向SDS - PAGE或交叉免疫电泳分析了血小板蛋白和糖蛋白。不同患者血小板的表面蛋白已用3H或125I进行放射性标记。我们的研究表明，5名患者的血小板中GPIbα和Ibβ缺失或浓度严重降低，另一名患者的血小板中Ib水平可检测到但有所降低。使用3H标记糖蛋白的研究表明，分子量82,000（GP V）和分子量17,000的糖蛋白也缺失或异常。这些额外缺陷与主要的GP Ib病变之间的关系尚待确定。应该强调的是，这些是膜异常，在B - S血小板中未发现α颗粒或细胞质蛋白缺乏。
