Complete mitochondrial genome sequences as a diagnostic tool for the health sciences
First Claim
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1. A method of detecting mutations associated with a disease, a disorder or aging in a subject having mtDNA, comprising:
- a. providing a biological sample from the subject;
b. extracting DNA from the biological sample;
c. detecting the presence of mutations in the mtDNA; and
d. determining whether the mutations are associated with normal interpopulation or intrapopulation variations, or whether the mutations are associated with the disease, the disorder or aging.
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Abstract
The examination of mutations in the mitochondrial genome is used as a diagnostic system for diseases such as prostate cancer, and non melanoma skin cancer. Characteristic mutations and rearrangements including, point mutations (transitions, transversions), deletions, inversions, duplications, recombinations, insertions or combinations thereof in the mitochondrial genome are used as early indicators of prostate cancer, and non melanoma skin cancer. Moreover, the 4977 bp, or “common deletion” as well as other associated mutations and/or deletions are used as a measure of aging.
16 Citations
30 Claims
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1. A method of detecting mutations associated with a disease, a disorder or aging in a subject having mtDNA, comprising:
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a. providing a biological sample from the subject;
b. extracting DNA from the biological sample;
c. detecting the presence of mutations in the mtDNA; and
d. determining whether the mutations are associated with normal interpopulation or intrapopulation variations, or whether the mutations are associated with the disease, the disorder or aging. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
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- 12. A kit for diagnosing a disease comprising a disposable chip, microarray, means for holding the disposable chip, means for extraction of mitochondrial DNA and means for access to a database of mitochondrial DNA sequences.
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13. A kit for determining predisposition to a disease or early detection of a disease comprising a disposable chip, microarray, means for holding the disposable chip, means for extraction of mitochondrial DNA and means for access to a database of mitochondrial DNA sequences.
- 16. An array comprising a plurality of nucleic acid members, and a solid substrate, wherein each nucleic acid member is indicative of the presence of a disease, a disorder or aging, or used to determine a prohibiting index by quantifying the proportion of base pair deletions and mutations associated with a disease, a disorder or aging, and is chosen from mitochondrial DNA, RNA transcribed from mitochondrial DNA, and cDNA, wherein each nucleic acid member has a unique position on said array and is stably associated with the solid substrate.
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17. An array comprising a plurality of nucleic acid members, and a solid substrate, wherein each nucleic acid member is indicative of the predisposition to a disease, a disorder or aging, or used to determine a prohibiting index by quantifying the proportion of base pair deletions and mutations associated with a disease, a disorder or aging, and is chosen from mitochondrial DNA, RNA transcribed from mitochondrial DNA, and cDNA, wherein each nucleic acid member has a unique position on said array and is stably associated with the solid substrate.
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21. A method of detecting heteroplasmy in a subject containing mtDNA comprising:
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a. providing a biological sample from the subject;
b. extracting DNA from the biological sample; and
c. performing denaturing HPLC on the sample.
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- 22. A database containing a plurality of human mitochondrial DNA sequences, the mitochondrial DNA sequences are chosen from normal control sequences associated with non-disease states, sequences associated with interpopulation variations, sequences associated with intrapopulation variations, sequences associated with pre-neoplasia, sequences associated with neoplasia, sequences associated with progression towards malignancy, sequences associated with malignancy, sequences associated with the presence of disease and sequences indicative of the predisposition to disease.
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23. A method of monitoring a person for the presence of pre-neoplasia, neoplasia or progression of neoplasia toward potential malignancy, in a biological sample from a subject, comprising:
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(a) providing a biological sample from the subject;
(b) extracting DNA from the biological sample;
(c) detecting the presence of mutations in the mtDNA;
(d) determining whether the mutations are associated with normal interpopulation or intrapopulation variations, or whether the mutations are associated with pre-neoplasia, neoplasia or progression of neoplasia toward potential malignancy; and
(e) repeating steps (a) to (d). - View Dependent Claims (24, 26, 27)
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28. An oligonucleotide probe chosen from SEQ ID NO. 19 to 101.
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29. A method of determining whether pre-neoplasia, neoplasia, or malignancy in a biological sample from a subject is latent or aggressive in its growth pattern, comprising:
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(a) providing a biological sample from the subject;
(b) extracting DNA from the biological sample;
(c) detecting the presence of mutations in the mtDNA;
(d) determining whether the mutations are associated with normal interpopulation or intrapopulation variations, or whether the mutations are associated with pre-neoplasia, neoplasia or progression of neoplasia toward potential malignancy; and
(e) repeating steps (a) through (d).
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Specification