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.
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.
COPYRIGHT: (C)2008,JPO&INPIT
Genomics,1997年 3月,vol.40,no.2,p.284-293
蛋白質 核酸 酵素(1997 12月号増刊),1997年12月,vol.42,no.17,p.2779-2785
蛋白質 核酸 酵素(1996 11月号増刊),1996年11月,vol.41,no.15,p.2478-2483