MUTANT SMOOTHENED AND METHODS OF USING THE SAME

摘要

PROBLEM TO BE SOLVED: To provide a method to diagnose patients who may be resistant to treatment either through natural variation of their SMO genotype or through acquired mutation and resistance.SOLUTION: The invention provides isolated nucleic acid molecules and probes encoding a mutant SMO protein and having mutations at amino acid 473 which is at least 95% identical to a specific sequence; and use of isolated mutant SMO proteins, and antibodies conjugated to a cytotoxic agent which specifically binds to the mutant SMO proteins. The invention also provides a method of detecting a mutated SMO gene in a sample comprising amplifying a nucleic acid corresponding to the carboxy-terminus of transmembrane domain 6 of SMO, or a fragment thereof suspected of containing a mutation, and comparing the electrophoretic mobility of the amplified nucleic acid to the electrophoretic mobility of corresponding wild-type SMO gene or fragment thereof.SELECTED DRAWING: None