发明名称 DETECTION OF MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH ALZHEIMER'S DISEASE AND PARKINSON'S DISEASE
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.
申请公布号 WO9409162(A1) 申请公布日期 1994.04.28
申请号 WO1993US10072 申请日期 1993.10.20
申请人 EMORY UNIVERSITY SCHOOL OF MEDICINE 发明人 WALLACE, DOUGLAS, C.
分类号 C12Q1/68;(IPC1-7):C12Q1/68;C07H21/04;C07H21/02;C12P19/34;C07K13/00 主分类号 C12Q1/68
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