Diagnosis of multiple sclerosis or tumors, by detecting absence of wild-type stem cell factor-apoptosis response gene, or the derived protein, also new nucleic acids

摘要

Diagnostic method for multiple sclerosis or tumors, or the risk of developing them, by testing for presence of the wild-type SARG (= SCF (stem cell factor)-apoptosis response gene) protein, or the nucleic acid encoding it, in a patient sample. Absence of the wild-type SARG or protein is a positive diagnosis, is new. The sample used is a material that, in a healthy subject, does contain SARG or its protein. Independent claims are also included for the following: (1) nucleic acid (I) that encodes rat, mouse or human SARG, and has a 1037, 1029 and 1082 base pair sequence, given in the specification; (2) derivatives (Ia) of (I) that have a nucleotide exchange or deletion, in the coding region, and serve as markers for multiple sclerosis (MS) or tumors, or risk of developing them; (3) nucleic acid probe for the new method comprising a fragment of (I), or its mutants, with at least 12, preferably 20, nucleotides; (4) polypeptide sequences (II) for rat, mouse or human SARG proteins, having a 158, 158 and 161 amino acid sequence, given in the specification; (5) derivatives (IIa) of (II) with an amino acid exchange or deletion; (6) preparation of antibodies by immunization with (II) or (IIa), optionally followed by fusion of spleen cells to form hybridomas; (7) kit for the new diagnostic methods; and (8) transgenic animals having a mutated or deleted SARG incorporated, and optionally stably integrated, into the animal's genome by recombinant methods.