Desmin gene having novel point mutation causative of dilated...

Details Desmin gene having novel point mutation causative of dilated... Desmin gene having novel point mutation causative of dilated...

2007-10-22

2010-11-02

Wilson, Michael C. (Department: 1632)

Multicellular living organisms and unmodified parts thereof and

Nonhuman animal

C800S003000

Reexamination Certificate

active

07825292

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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