MUTATIONS AND POLYMORPHISMS OF PTK2B

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 PTK2B gene. The invention provides new PTK2B 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 PTK2B mutations of the invention, expression vectors encoding the PTK2B mutant polypeptides of the invention and organisms that express the PTK2B mutant and polymorphic polynucleotides and/or PTK2B mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the PTK2B 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.