Diagnosis and treatment of blood disorders

Abstract

Based on the discovery of the nucleotide and amino acid differences which distinguish the Gova and Govb allelic forms of the membrane glycoprotein CD109, and which comprise the biallelic Gov platelet alloantigen system, compositions and methods are provided for determining the Gov genotype and phenotype of individuals. Also provided, on the basis of this discovery, are compositions and methods for treating disorders associated with Gov alloantigen incompatibility, such as the bleeding disorders post-transfusion purpura, post-transfusion platelet refractoriness, and neonatal alloimmune thrombocytopenia. The two allelic forms of CD109 differ by a single amino acid. The Gova allelic form has Tyr at amino acid position 703 in the CD109 sequence. The Govb allelic form has Ser at the same position. This amino acid difference is due to a single change, from A for the Gova allele to C for the Govb allele, in the CD109 gene.

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