Isolated SH3 genes associates with myeloproliferative disorders and leukemia and uses thereof

Abstract

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human gene (SH3D1A), some polymorphic alleles of which cause susceptibility to cancers hematopoietic disorders and in particular platelet disorders, Down Syndrome, megakaryocytic disorders and leukemia. More specifically, the invention relates to isolated nucleic acid of the human SH3D1A gene, products, and their use in diagnosis and treatments. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the SH3D1A gene for mutations, which are useful for diagnosing the predisposition to hematopoietic disorders.

Dependencies are inferred from the claim text.