FUKUYAMA-TYPE CONGENITAL MUSCULAR DYSTROPHY (FCMD)-CAUSING PROTEI

摘要

PPROBLEM TO BE SOLVED: To provide a Fukuyama-type congenital muscular dystrophy (FCMD)-causing gene, to provide a (FCMD)-causing protein, to provide information related to a FCMD-causing gene abnormality (mutation) participating in the crisis of FCMD, to provide a technique for detecting the genetic abnormality of the FCMD-causing gene. PSOLUTION: This gene is represented by (a) or (b). (a) A Fukuyama-type congenital muscular dystrophy (FCMD)-causing protein having a specific amino acid sequence. (b) A protein having a specific amino acid sequence in which one or more amino acids are deleted, replaced or added and having the same biological functions as those of the FCMD-causing protein. A DNA encoding the protein is disclosed. A mutated FCMD-causing DNA is characterized by having a mutation causing the functional failure of the encoded FCMD-causing protein in a base sequence represented by a specific sequence. The presence of the mutated FCMD-causing DNA in the gene of a testee is detected. PCOPYRIGHT: (C)2008,JPO&INPIT