Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients.
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.
Drouin
J
J
INSERM U. 63, Faculté de Médecine Alexis Carrel, Lyon, France.
McGregor
J L
JL
Parmentier
S
S
Izaguirre
C A
CA
Clemetson
K J
KJ
D001606:Bernard-Soulier Syndrome / Q000097:blood* / Q000235:genetics; D001791:Blood Platelet Disorders / Q000097:blood*; D001792:Blood Platelets / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D007118:Immunoassay / Q000379:methods; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000276:immunology / Q000302:isolation & purification*
D010980:Platelet Membrane Glycoproteins