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1. 发明申请

WO1994009162A1 DETECTION OF MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH ALZHEIMER'S DISEASE AND PARKINSON'S DISEASE 审中-公开
标题翻译：检测与阿尔茨海默病和帕金森病相关的麻醉DNA突变
公开(公告)号：WO1994009162A1
公开(公告)日：1994-04-28
申请号：PCT/US1993010072
申请日：1993-10-20
申请人： EMORY UNIVERSITY SCHOOL OF MEDICINE
发明人： EMORY UNIVERSITY SCHOOL OF MEDICINE , WALLACE, Douglas, C.
IPC分类号： C12Q01/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： This invention provides a method of diagnosing or predicting a predisposition to Alzeimer's disease and/or Parkinson's disease. The method comprises detecting in a sample from a subject the presence of a mutation, for example, in nucleotide position 4,336, 3,397, 3,196 or an insertion between positions 956 and 965, of mitochondrial DNA. The presence of the mutation indicates the presence of or a predisposition to Alzeimer's disease. Since each mutation increases the likelihood of developing or having Alzeimer's disease, the detection of more than one of the mutations in an individual can increase the probability of having or developing the disease. The invention also provides a method of determining mutations associated with the presence of or predisposition to Alzeimer's and/or Parkinson's disease. The method comprises: a) obtaining a mitochondrial DNA-containing sample from a subject with Alzeimer's disease; b) determining the presence of mutations in the mitochondrial DNA; c) comparing the mutations found in normal subject; and d) determining which mutations have a greater rate of occurence in the subject with Alzeimer's disease.
摘要翻译：本发明提供了诊断或预测阿尔茨海默病和/或帕金森病易感性的方法。该方法包括在受试者的样品中检测是否存在例如核苷酸位置4,336,3,397,3916或线粒体DNA的位置956和965之间的插入。突变的存在表明Alzeimer病的存在或倾向。由于每个突变增加了发生或具有阿尔茨海默病的可能性，所以检测个体中多于一个的突变可增加疾病发生或发展的可能性。本发明还提供了确定与Alzeimer's和/或帕金森氏病的存在或倾向相关的突变的方法。该方法包括：a）从患有Alzeimer病的受试者获得含有线粒体DNA的样品; b）确定线粒体DNA中突变的存在; c）比较正常受试者发现的突变; 和d）确定哪些突变在患有Alzeimer病的患者中具有更高的发生率。

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