Drouin J, McGregor J L, Parmentier S, Izaguirre C A, Clemetson K J
INSERM U. 63, Faculté de Médecine Alexis Carrel, Lyon, France.
Blood. 1988 Sep;72(3):1086-8.
A study of the Bernard-Soulier syndrome in two unrelated families using different polyclonal antibodies in a sensitive immunoblot assay showed residual amounts of platelet membrane glycoprotein (GP) lb in the eight homozygotes, as well as the near-absence of GPlb beta and GPIX. The eight heterozygotes studied showed a double band pattern for GPlb and about half the normal level of GPlb beta and GPIX. Therefore, we conclude that the Bernard-Soulier syndrome is heterogeneous and is probably not due to gene deletions.
在一项针对两个无亲缘关系家族的Bernard-Soulier综合征的研究中，使用不同的多克隆抗体进行敏感的免疫印迹分析，结果显示，8名纯合子中存在残余量的血小板膜糖蛋白（GP）lb，同时几乎不存在GPlbβ和GPIX。所研究的8名杂合子显示GPlb呈双条带模式，且GPlbβ和GPIX的水平约为正常水平的一半。因此，我们得出结论，Bernard-Soulier综合征具有异质性，可能并非由基因缺失所致。
