Data/hora: 09/06/2024 02:45:31

Provedor de dados: 	19	
País: 	Japan	
Título: 	Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan	
Autores: 	HORIUCHI, Noriyuki; KUMAGAI, Daishiro; MATSUMOTO, Kotaro; INOKUMA, Hisashi; FURUOKA, Hidefumi; KOBAYASHI, Yoshiyasu; 松本, 高太郎; 猪熊, 壽; 古岡, 秀文; 古林, 与志安.	
Data: 	2015	
Ano: 	2015	
Palavras-chave: 	Cattle; Dilated cardiomyopathy; Nonsense mutation; OPA3 gene.	
Resumo: 	Bovine dilated cardiomyopathy (DCM) is an autosomal recessive genetic disorder causing congestive heart failure and subsequent death. Recently, a nonsense mutation c.343C&gt;T in the bovine optic atrophy 3 (OPA3) gene had been reported to cause the DCM in Holstein cattle in Switzerland. However, the mutation has not been confirmed in bovine DCM outside Switzerland. Nine Holstein Friesian cows that were macroscopically and histologically diagnosed with or suspected of DCM and 12 control cows kept in Japan were tested for the mutation. The mutation surrounding OPA3 DNA fragment was amplified by PCR and subjected to direct sequences. The homogeneous c.343C&gt;T mutation was proved to occur in all the affected cows and not in the control cows. The present study is the first report of the mutation in the DCM affected cows outside Switzerland.	
Idioma: 	Inglês	
Identificador: 	http://ir.obihiro.ac.jp/dspace/handle/10322/4208	
Editor: 	日本獣医学会	
Fonte: 	日本獣医学会