DESMIN GENE HAVING NOVEL POINT MUTATION CAUSATIVE OF DILATED CARDIOMYOPATHY

摘要

It is intended to clarify the cause of serious subline (T) cardiomyopathy not associated with macroscopic megalocardia separated from a hamster with hypertrophic cardiomyopathy (B) and clarify the pathogenic cause of dilated cardiomyopathy, thereby establishing a method of detecting and identifying dilated cardiomyopathy and a method of preventing and treating the same. A desmin gene having a point mutation at the site corresponding to the 571−position of the base sequence in the cDNA translation domain of Syrian hamster; a polypeptide thereof; and an oligonucleotide consisting of 5 to 250 bases including the point mutation site or an oligonucleotide having a sequence complementary thereto. A method of detecting and identifying the point mutation at the site corresponding to the 571−position of the base sequence in the cDNA translation domain of Syrian hamster to judge whether or not it is a gene causative of hereditary cardiomyopathy.