Analysis of methylation status and copy number
AssigneesRamot at Tel-Aviv University Ltd., Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen
InventorsYuval EBENSTEIN, Elmar WEINHOLD, Assaf GRUNWALD, Tslil GABRIELI
Life of this patent
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Abstract
A method of diagnosing a disease associated with a DNA repeat sequence is disclosed. The method comprises: (a) determining the number of repeats of a DNA sequence in DNA molecules of a sample of the subject; and (b) determining the CpG methylation status of the DNA molecules, wherein the number of repeats of the DNA sequence and the CpG methylation status of the DNA molecules is indicative of the disease.
Claims24
A method of diagnosing a disease associated with a DNA repeat sequence comprising:
- (a) determining the number of repeats of a DNA sequence in DNA molecules of a sample of the subject by attaching to the DNA molecules a detectable moiety which labels said repeats of said DNA sequence using a sequence-specific DNA labeling agent;
- and
- (b) determining the CpG methylation status of said DNA molecules, wherein the number of repeats of said DNA sequence and the CpG methylation status of said DNA molecules is indicative of the disease.
5-6. (canceled)
13-30. (canceled)
A kit comprising:
- (i) a methyltransferase enzyme;
- (ii) a co-factor of said methyltransferase enzyme which is labeled with a detectable moiety;
- and
- (iii) a sequence specific DNA labeling agent.
The kit of c1aim 31, further comprising at least one additional component selected from the group consisting of a DNA polymerase enzyme, fluorescent nucleotides and a DNA ligase enzyme.
A method of analyzing the methylation status of a CpG site along a DNA molecule comprising:
- (a) contacting the DNA with a methyltransferase enzyme in the presence of a co-factor which is labeled with a detectable moiety under conditions which brings about transfer of said detectable moiety from said co-factor to said DNA;
- (b) extending the DNA molecule;
- and
- (c) detecting said detectable moiety, wherein the presence of the detectable moiety is indicative of a non-methylated CpG site
- and wherein the method further comprises attaching to the DNA molecule an additional detectable moiety which labels a sequence of said DNA which is not a CpG site using a DNA labeling agent and wherein said DNA labeling agent is a sequence-specific DNA labeling agent.
36-41. (canceled)
(canceled)
47-63. (canceled)
Dependencies are inferred from the claim text.