MUTATIONS AND POLYMORPHISMS OF C-ABL

摘要

This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the c ABL gene. The invention provides new c ABL mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the c ABL mutations of the invention, expression vectors encoding the c ABL mutant polypeptides of the invention and organisms that express the c ABL mutant and polymorphic polynucleotides and/or c ABL mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the c ABL mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.