Systems for rapid forensic analysis of mitochondrial DNA and characterization of mitochondrial DNA heteroplasmy
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Abstract
The present invention provides methods for rapid forensic analysis of mitochondrial DNA and methods for characterizing heteroplasmy of mitochondrial DNA, which can be used to assess the progression of mitochondrial diseases.
174 Citations
70 Claims
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1-28. -28. (canceled)
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29. A system, comprising:
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at least one mass spectrometer configured to determine molecular masses of two or more amplification products, and/or fragments thereof, of two or more segments of mitochondrial DNA from a forensic evidence sample; at least one database comprising a plurality of known molecular masses from said two or more segments of mitochondrial DNA, and/or fragments thereof, from a plurality of subjects; and
,at least one computer configured to compare said molecular masses of said two or more amplification products, and/or fragments thereof, with said plurality of known molecular masses to reach a forensic conclusion. - View Dependent Claims (30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44)
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45. A system, comprising:
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at least one mass spectrometer configured to determine molecular masses of two or more amplification products, and/or fragments thereof, of two or more segments of mitochondrial DNA from a forensic evidence sample; at least one database comprising a plurality of known base compositions from said two or more segments of mitochondrial DNA, and/or fragments thereof, from a plurality of subjects; and
,at least one computer configured to calculate base compositions of said two or more amplification products, and/or fragments thereof, from said molecular masses and to compare said base compositions of said two or more amplification products, and/or fragments thereof, with said plurality of known base compositions to reach a forensic conclusion. - View Dependent Claims (46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60)
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61. A system, comprising:
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at least one mass spectrometer configured to determine molecular masses of two or more amplification products of two or more segments of mitochondrial DNA from a subject; and
,at least one computer configured to determine base compositions of said two or more amplification products from said molecular masses and to characterize heteroplasmy of said two or more segments of mitochondrial DNA from said base compositions. - View Dependent Claims (62, 63, 64, 65, 66, 67, 68, 69, 70)
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Specification