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Detection of mitochondrial DNA mutations associated with Alzheimer's disease and Parkinson's disease

机译:检测与阿尔茨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 Alzheimer'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 Alzheimer's and Parkinson's disease. Since each mutation increases the likelihood of developing or having Alzheimer's and Parkinson'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 Alzheimer's and/or Parkinson's disease. The method comprises:PP(a) obtaining a mitochondrial DNA-containing sample from a subject with Alzheimer's and Parkinson's disease;PP(b) determining the presence of mutations in the mitochondrial DNA;PP(c) comparing the mutations to mutations found in a normal subject; andPP(d) determining which mutations have a greater rate of occurrence in the subject with Alzheimer's and Parkinson's disease.
机译:本发明提供了一种阿尔茨海默氏病和/或帕金森氏病的方法。该方法包括在来自受试者的样品中检测突变的存在,例如,线粒体DNA的核苷酸4位,336位,3,397位,3196位或956位和965位之间的插入。突变的存在表明阿尔茨海默氏病和帕金森氏病的存在或易感性。由于每种突变都会增加罹患或患有阿尔茨海默氏病和帕金森氏病的可能性,因此,检测到个体中多个突变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茨海默氏病和/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)从患有阿尔茨海默氏病和帕金森氏病的受试者获得含线粒体DNA的样品;

(b)确定线粒体DNA中突变的存在;

(c)比较突变与正常受试者中发现的突变; (d)确定在阿尔茨海默氏病和帕金森氏病的受试者中哪些突变发生率更高。

著录项

  • 公开/公告号US5494794A

    专利类型

  • 公开/公告日1996-02-27

    原文格式PDF

  • 申请/专利权人 EMORY UNIVERSITY;

    申请/专利号US19920963723

  • 发明设计人 DOUGLAS C. WALLACE;

    申请日1992-10-20

  • 分类号C12Q1/68;C12P19/34;

  • 国家 US

  • 入库时间 2022-08-22 03:38:57

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