ASSAY FOR DETECTING GENETIC ABNORMALITIES IN GENOMIC NUCLEIC ACIDS
First Claim
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1. A method for detecting a target sequence in genomic nucleic acid, comprising:
- a. contacting a sample of genomic nucleic acid comprising said target sequence with a probe specific for said target sequence to form a complex comprising said genomic nucleic acid and said probe hybridized to said target sequence, wherein said probe comprises a detectable label, and said target sequence has not been amplified;
b. anchoring on a solid support said complex formed in step (a) through said genomic nucleic acid by means other than nucleic acid hybridization; and
c. detecting the presence of said target sequence in said genomic nucleic acid by detecting association of said label with said solid support.
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Abstract
The present invention provides methods of detecting unamplifed genomic nucleic acid anchored to a solid support. The methods are useful for the detecting genetic abnormalities associated with various diseases, diagnosis, and prognosis.
106 Citations
48 Claims
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1. A method for detecting a target sequence in genomic nucleic acid, comprising:
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a. contacting a sample of genomic nucleic acid comprising said target sequence with a probe specific for said target sequence to form a complex comprising said genomic nucleic acid and said probe hybridized to said target sequence, wherein said probe comprises a detectable label, and said target sequence has not been amplified; b. anchoring on a solid support said complex formed in step (a) through said genomic nucleic acid by means other than nucleic acid hybridization; and c. detecting the presence of said target sequence in said genomic nucleic acid by detecting association of said label with said solid support. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13)
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14. A method for detecting the presence or absence of a genetic abnormality in genomic nucleic acid, comprising:
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a. contacting a sample of genomic nucleic acid with a probe specific for said genetic abnormality to form a complex comprising said genomic nucleic acid hybridized to said probe if said genetic abnormality is present in said genomic nucleic acid, wherein said probe comprises a detectable label and said target sequence has not been amplified; b. anchoring on a solid support said complex formed in step (a) through said genomic nucleic acid by means other than nucleic acid hybridization; and c. detecting the presence of said genetic abnormality by detecting association of the said label with said solid support. - View Dependent Claims (15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29)
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30. A method for detecting the presence or absence of a genetic abnormality in genomic nucleic acid, comprising:
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a. contacting a sample of genomic nucleic acid containing the genetic abnormality with a first probe specific for said genetic abnormality to form a first complex comprising said genomic nucleic acid hybridized to said first probe, wherein said probe comprises a detectable label, said genomic nucleic acid has not been amplified; b. anchoring on a solid support said complex formed in step (a) through said genomic nucleic acid by means other than nucleic acid hybridization; c. contacting a reference nucleic acid with a second probe specific for said reference nucleic acid to form a second complex comprising said reference nucleic acid hybridized to said second probe, wherein said second probe comprises a detectable label; d. anchoring on a solid support said complex formed in step (c) through said reference nucleic acid by means other than nucleic acid hybridization; and e. measuring the amount of said first complex formed by detecting the detectable label of said first probe associated with the complex and measuring the amount of second complex formed by detecting the detectable label of said second probe associated with the complex; and f. comparing the amount of said first complex to the amount of said second complex, wherein a difference in the amount of two complexes is an indicative of genetic abnormality. - View Dependent Claims (31, 32, 33, 34, 35, 36)
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37. A method for detecting the presence or absence of a genetic abnormality in genomic nucleic acid, comprising:
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a. contacting a sample of genomic nucleic acid containing the genetic abnormality with a first probe specific for the genetic abnormality to form a first complex comprising said genomic nucleic acid hybridized to said first probe, wherein said probe comprises a detectable label and said genomic nucleic acid has not been amplified; b. anchoring on a solid support said first complex formed in step (a) through said genomic nucleic acid by means other than nucleic acid hybridization; c. contacting a sample of genomic nucleic acid with a second probe specific for a reference nucleic acid to form a second complex comprising said reference nucleic acid hybridized to the second probe wherein said second probe comprises a detectable label; d. anchoring on a solid support said second complex formed in step (c) through said genomic nucleic acid by means other than nucleic acid hybridization; e. measuring the amount of said first complex formed by detecting the detectable label of said first probe associated with the complex and measuring the amount of second complex formed by detecting the detectable label of said second probe associated with the complex; f. obtaining a ratio of the amount of said first and said second complex; and g. comparing said ratio obtained to a ratio similarly obtained using genomic nucleic acid from a reference sample, wherein a difference in the ratios is indicative of genetic abnormality. - View Dependent Claims (38, 39, 40, 41, 42, 43, 44)
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45. A method of diagnosis of a disease in an individual, comprising,
a. contacting a sample of genomic nucleic acid from the individual with a probe complementary to nucleic acid sequence specific for said disease to form a complex comprising said genomic nucleic acid and said probe if said genomic nucleic acid contains the nucleic acid sequence specific for said disease, wherein said probe comprises a detectable label and said target sequence of said genomic nucleic acid has not been amplified; -
b. anchoring on a solid support said complex formed in step (a) through said genomic nucleic acid by means other than nucleic acid hybridization; c. measuring the amount of said complex formed on said solid support by detecting the amount of detectable label associated with said support; and d. comparing the amount of complex formed to the amount of complex formed using genomic nucleic acid from a reference sample assayed under similar conditions, wherein a difference in amount of complex formed from the said individual as compared to the reference sample is diagnostic for said disease. - View Dependent Claims (46, 47, 48)
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Specification