发明名称 |
METHODS OF DETECTING CHARCOT-MARIE TOOTH DISEASE TYPE 2A |
摘要 |
<p>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.</p> |
申请公布号 |
CA2545917(C) |
申请公布日期 |
2014.07.29 |
申请号 |
CA20042545917 |
申请日期 |
2004.11.11 |
申请人 |
DUKE UNIVERSITY |
发明人 |
VANCE, JEFFERY M.;ZUCHNER, STEPHAN;PERICAK-VANCE, MARGARET A. |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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地址 |
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