Invention Grant
US07825292B1 Desmin gene having novel point mutation causative of dilated cardiomyopathy
失效
Desmin基因具有引起扩张型心肌病的新型点突变
- Patent Title: Desmin gene having novel point mutation causative of dilated cardiomyopathy
- Patent Title (中): Desmin基因具有引起扩张型心肌病的新型点突变
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Application No.: US11975760Application Date: 2007-10-22
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Publication No.: US07825292B1Publication Date: 2010-11-02
- Inventor: Aiji Sakamoto
- Applicant: Aiji Sakamoto
- Applicant Address: JP Saitama
- Assignee: Japan Science and Technology Agency
- Current Assignee: Japan Science and Technology Agency
- Current Assignee Address: JP Saitama
- Agency: Edwards Angell Palmer & Dodge LLP
- Agent Peter F. Corless; Colleen McKiernan
- Priority: JP2001-345491 20011112; JP2002-034379 20020212
- Main IPC: A01K67/00
- IPC: A01K67/00 ; A01K67/033

Abstract:
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.
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