Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients

Abstract

A study of Bernard-Soulier syndrome in two unrelated families using different polyclonal antibodies in a sensitive immunoblot assay showed residual amounts of platelet membranes glycoprotein (GP) Ib in the eight homozygotes, as well as the near-absence of GPIb beta and GPIX. The eight heterozygotes studied showed a double band pattern for GPIb and about half the normal level of GPIb beta and GPIX. Therefore, we conclude that the Bernard-Soulier syndrome is heterogeneous and is probably not due to gene deletions.