发明授权
- 专利标题: Methods of detecting charcot-marie tooth disease type 2A
- 专利标题(中): 检测2A型Charcot-marie牙齿疾病的方法
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申请号: US12731406申请日: 2010-03-25
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公开(公告)号: US08206922B2公开(公告)日: 2012-06-26
- 发明人: Jeffery M. Vance , Stephan Zuchner , Margaret A. Pericak-Vance
- 申请人: Jeffery M. Vance , Stephan Zuchner , Margaret A. Pericak-Vance
- 申请人地址: US NC Durham
- 专利权人: Duke University
- 当前专利权人: Duke University
- 当前专利权人地址: US NC Durham
- 代理机构: Hamilton Brook Smith Reynolds, P.C.
- 主分类号: C12Q1/68
- IPC分类号: C12Q1/68 ; C12P19/34
摘要:
Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.
公开/授权文献
- US20100184080A1 Methods of Detecting Charcot-Marie Tooth Disease Type 2A 公开/授权日:2010-07-22