title: Bernard-Soulier syndrome: diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients.
abstract: Two unrelated patients with Bernard-Soulier syndrome and their relatives were studied. The patients demonstrated severe bleeding diathesis, the relatives were asymptomatic. The propositi showed the characteristic abnormalities of the syndrome: thrombocytopenia, a percentage of giant platelets higher than 65%, prolonged bleeding time and defective platelet aggregation to ristocetin and bovine plasma. On the contrary, in the heterozygotes, the typical abnormalities were not fully evident. We introduce a simple ELISA method for the precise definition of both homozygous and heterozygous states for the syndrome by the quantitation of platelet glycoprotein (GP) Ib. Specific binding of monoclonal antibodies anti-platelet GPIb was performed both by direct binding of radioiodinated antibody and by ELISA. Comparable results were obtained. In fact, we demonstrated near absence of GPIb in the 2 propositi and about half the amount in the heterozygotes studied compared to normal platelets.
mesh_terms: D000293:Adolescent; D000911:Antibodies, Monoclonal; D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001791:Blood Platelet Disorders / Q000175:diagnosis*; D001792:Blood Platelets / Q000032:analysis* / Q000276:immunology; D002648:Child; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000032:analysis* / Q000276:immunology
chemical_list: D000911:Antibodies, Monoclonal; D010980:Platelet Membrane Glycoproteins