INHIBITOR PROTEIN OF NEURONAL APOPTOSIS, GENE SEQUENCE THEREOF AND MUTATION OF THE SAME GENE CAUSATIVE OF SPINAL MUSCULAR ATROPHY

摘要

PPROBLEM TO BE SOLVED: To provide a method for diagnosing spinal muscular atrophy on the basis of deletion of a neuronal apoptosis inhibitor protein gene. PSOLUTION: It is found that the gene for spinal muscular atrophy which is an autosomal recessive neurodegenerative disorder is mapped to a region of chromosome 5. Since the gene encodes a protein having homology with apoptosis inhibitor proteins of viruses, the encoded protein is specified as an NAIP (neuronal apoptosis inhibitor protein). A deletion is recognized in the NAIP region in patients suffering from the spinal muscular atrophy and not in the normal population. PCOPYRIGHT: (C)2008,JPO&INPIT