发明名称 |
DESMIN GENE HAVING NOVEL POINT MUTATION CAUSATIVE OF DILATED CARDIOMYOPATHY |
摘要 |
The present invention is intended to elucidate the cause of severe cardiomyopathy in subline (T) not manifesting the macroscopic cardiac hypertrophy, which has been separated from a hamster (B) with hypertrophic cardiomyopathy 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. The present invention relates to a desmin gene having a point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region 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. Moreover, the present invention relates to 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 region of Syrian hamster to judge whether or not it is a gene causative of hereditary cardiomyopathy. |
申请公布号 |
EP1443111(B1) |
申请公布日期 |
2010.02.17 |
申请号 |
EP20020803090 |
申请日期 |
2002.10.11 |
申请人 |
JAPAN SCIENCE AND TECHNOLOGY AGENCY |
发明人 |
SAKAMOTO, AIJI |
分类号 |
A01K67/027;C12N15/12;C07K14/47;C07K16/18;C12N15/09;C12N15/85;C12Q1/68;G01N33/15;G01N33/50;G01N33/53 |
主分类号 |
A01K67/027 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|