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US 12,006,547 B2Granted
Detection of chromosome interactions as indicative of amyotrophic lateral sclerosis
AssigneeOxford Biodynamics PLC
InventorsAlexandre Akoulitchev, Aroul Selvam Ramadass, Ewan Hunter, Matthew Salter
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Abstract
A process for analysing chromosome regions and interactions relating to ALS and Huntington's disease.
Claims2
A process for selecting a human individual and treating the selected human individual, wherein the selected human individual is in need of therapy for amyotrophic lateral sclerosis (ALS), wherein selecting the human individual is by:
- detecting the absence of a first chromosome interaction,
- detecting the presence of a second chromosome interaction,
- detecting the presence of a third chromosome interaction,
- detecting the presence of a fourth chromosome interaction,
- detecting the presence of a fifth chromosome interaction,
- detecting the absence of a sixth chromosome interaction,
- detecting the absence of a seventh chromosome interaction,
- detecting the absence of an eighth chromosome interaction,
- detecting the presence of a ninth chromosome interaction,
- detecting the absence of a tenth chromosome interaction,
- detecting the absence of an eleventh chromosome interaction,
- detecting the absence of a twelfth chromosome interaction,
- detecting the presence of a thirteenth chromosome interaction,
- detecting the presence of a fourteenth chromosome interaction,
- detecting the presence of a fifteenth chromosome interaction,
- detecting the presence of a sixteenth chromosome interaction, and
- detecting the presence of a seventeenth chromosome interaction
- in a sample from the human individual;
- and treating the selected human individual for amyotrophic lateral sclerosis (ALS) by administering an agent which is therapeutic for amyotrophic lateral sclerosis (ALS);
- wherein said detecting comprises:
- (i) cross-linking of chromosome regions which have come together in a chromosome interaction;
- (ii) subjecting said cross-linked regions to cleavage to form cross-linked cleaved nucleic acid;
- (iii) ligating said cross-linked cleaved nucleic acid ends to form ligated nucleic acid;
- and
- (iv) detecting the presence or absence of the ligated nucleic acid;
- wherein:
- the ligated nucleic acid corresponding to the first chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 2)
- TCACCACACATCACCCCCTTGCTCCTCCTCGAGTCTTGGTGACCACAAC
- AGGGTGCCACC,
- the ligated nucleic acid corresponding to the second chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 3)
- GAGGTGGGTGAATCATGAGGTCAAGGGTTCGACAATAGTTGAGAATCTC
- CAACCACCTGG,
- the ligated nucleic acid corresponding to the third chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 4)
- GGCCTTATAGTCAGCTGATCAGGTGAAATCGATTGGTCCTTAGGATCAGC
- TACCATTTGC,
- the ligated nucleic acid corresponding to the fourth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 5)
- GAGGCAGGCGGATCACAAAGTCAAAAGATCGATAACTTCAATAATAGTTA
- CAGATGCAAA,
- the ligated nucleic acid corresponding to the fifth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 6)
- AGCACCATATCTGGGATGTAGCTATTGCTCGAGATTGCAGTGAGCTGTGA
- TCACACCTCT,
- the ligated nucleic acid corresponding to the sixth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 7)
- TCTTCCCTCTTTTTAAAACCACCATTCATCGACCCCACACATCCTGTGCC
- ACTCTACTGC,
- the ligated nucleic acid corresponding to the seventh chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 8)
- TAACCATTATGCATCACTAACATAGCATTCGATATGATATGCTCAGTTTA
- GTTAGGGAAA,
- the ligated nucleic acid corresponding to the eighth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 9)
- GGCTCAGGAAGAGAACTATTTGTCTCTTTCGACACGCACATGCAGGACAC
- TCACACGTAG,
- the ligated nucleic acid corresponding to the ninth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 10)
- GTTGGGTGGATCCCTTGAGCTCAGGAATTCGAAGAATGATTTTTCAGCCC
- GTGTGGAAGG,
- the ligated nucleic acid corresponding to the tenth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 11)
- ATCAAAAGAAAATAGATACTTGTCTTACTCGAGTTGAATAAAATCCTCAG
- CTTTCTGTCC,
- the ligated nucleic acid corresponding to the eleventh chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 12)
- AAAAGAAACTGTGAAAAGTTGTCACATTTCGATTAAATCCAAAAAGGTCT
- TCTATGAGGC,
- the ligated nucleic acid corresponding to the twelfth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 13)
- TTAAAAGTATAGTAGTTGGCATTAACATTCGACCTTTTTCTGTTTCAGTA
- ACCAACCCAG,
- the ligated nucleic acid corresponding to the thirteenth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 14)
- CATCAACTAATAGTTAAACATTATAATATCGACTGAAGACCTTTCATACT
- GTAAGATTCA,
- the ligated nucleic acid corresponding to the fourteenth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 15)
- CATCAACTAATAGTTAAACATTATAATATCGAGTCTGCAGTGAGCTGAGA
- TCACACTGCC,
- the ligated nucleic acid corresponding to the fifteenth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 16)
- TTATTCCTTTCCAAATAGTTAAAATTATTCGAAACTTTTAAGAATCAATA
- TAAAATTTCC,
- the ligated nucleic acid corresponding to the sixteenth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 17)
- CATAATTATAAATTAAAAAATGACACTATCGATTATGTCCAGTGTTTCTT
- GGTTGGTGTC,
- and
- the ligated nucleic acid corresponding to the seventeenth chromosome interaction is detected by the probe sequence
- (SEQ ID NO:
- 18)
- CAGAGCACTAAGATAGACTTCTAAGGTTTCGAGGCATATAGCTCCAGCTG
- TATTGAGGTA.
109 more elements
Dependencies are inferred from the claim text.