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Method and kit for detection of mutations in mitochondrial dna

  • US 20060078881A1
  • Filed: 03/13/2003
  • Published: 04/13/2006
  • Est. Priority Date: 03/15/2002
  • Status: Abandoned Application
First Claim
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1. A method for detection of mutations/polymorphisms in a sample of human mitochondrial DNA comprising the following steps:

  • (a) determining the presence or absence of polymorphic sites having a frequency of mutation of less than 3% in the general population but at least 3% in the Caucasian population according to Table 1 in the nucleic acid sequence of the mitochondrial genome in said sample from a human subject; and

    (b) relating the information from step (a) to mitochondrial nucleic acid sequence information of known origin; and

    (c) relating the information from step (a), where in one or more of the mitochondrial fragments 1, 4, 12, 14, 15, 16, 19, 20, 24, 25, 26, and 27 in Table 1, to be used for determination of polymorphic site(s).

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