Inventors:
Julie R. Korenberg - Los Angeles CA, US
Xiao-Ning Chen - Arcadia CA, US
International Classification:
C12N 15/00
US Classification:
435 691, 536 231, 4353201, 435325, 4352523, 4352542
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.