首页> 外国专利> DETECTION OF MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH ALZHEIMER'S DISEASE AND PARKINSON'S DISEASE

DETECTION OF MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH ALZHEIMER'S DISEASE AND PARKINSON'S DISEASE

机译:检测与阿兹海默氏病和帕金森氏病相关的线粒体DNA突变

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.
机译:本发明提供了一种诊断或预测阿尔茨海默氏病和/或帕金森氏病易感性的方法。该方法包括在来自受试者的样品中检测突变的存在,例如在线粒体DNA的核苷酸4,336、3,397、3,196位或在956和965位之间的插入中。突变的存在表明存在或易患阿泽米氏病。由于每种突变都增加了罹患或患有阿尔泽默氏病的可能性,因此在个体中检测到多个突变可能会增加罹患或发展该疾病的可能性。本发明还提供一种确定与阿尔泽米氏病和/或帕金森氏病的存在或易感性有关的突变的方法。该方法包括:a)从患有阿尔泽米氏病的受试者获得含线粒体DNA的样品; b)确定线粒体DNA中是否存在突变; c)比较在正常受试者中发现的突变; d)确定哪些突变在患有阿尔泽米氏病的受试者中发生率更高。

著录项

  • 公开/公告号WO9409162A1

    专利类型

  • 公开/公告日1994-04-28

    原文格式PDF

  • 申请/专利权人 EMORY UNIVERSITY SCHOOL OF MEDICINE;

    申请/专利号WO1993US10072

  • 发明设计人 WALLACE DOUGLAS C.;

    申请日1993-10-20

  • 分类号C12Q1/68;C07H21/02;C07H21/04;C07K13/00;C12P19/34;

  • 国家 WO

  • 入库时间 2022-08-22 04:40:49

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