US5472842A
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Detection of amplified or deleted chromosomal regions
Assignee: University of California
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Filing: 1993-10-06
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Granted: 1995-12-05
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Expires: 2013-10-06
Abstract
Abstract The present invention relates to in situ hybridization methods for the identification of new chromosomal abnormalities associated with various diseases. In particular, it provides probes which are specific to a region of amplification in chromosome 20.
Inventors
- 👤 Trond Stokke
- 👤 Daniel Pinkel
- 👤 Joe W. Gray
Bibliographic Details
Application Number
—
Jurisdiction
US
Data Source
google_patents
Last Synchronized
2026-11-05 10:54
CPC Classifications
C; C12; C12Q; C12Q1/00; C12Q1/68; C12Q1/6813; C12Q1/6841; C12Q1/6827; Y; Y10; Y10S; Y10S435/00; Y10S435/81
Claims Analysis
Total Claims: 20
Claim 1
Independent Claim
79 words
A method of detecting a chromosome abnormality in a preselected chromosome, the method comprising: providing a mapped library of labeled probes specific to the chromosome; contacting a chromosome sample from a patient with the library under conditions in which the probes bind selectively with target polynucleotide sequences in the sample to form hybridization complexes; detecting the hybridization complexes; and determining the copy number of each complex, thereby detecting the presence or absence of a chromsome abnormality in the chromosome.
Claim 2
Independent Claim
79 words
A method of detecting a chromosome abnormality in a preselected chromosome, the method comprising: providing a mapped library of labeled probes specific to the chromosome; contacting a chromosome sample from a patient with the library under conditions in which the probes bind selectively with target polynucleotide sequences in the sample to form hybridization complexes; detecting the hybridization complexes; and determining the copy number of each complex, thereby detecting the presence or absence of a chromsome abnormality in the chromosome.
Claim 3
Dependent Claim
12 words
The method of claim 1, wherein the chromosome abnormality is a deletion.
Claim 4
Dependent Claim
12 words
The method of claim 1, wherein the chromosome abnormality is an amplification.
Claim 5
Dependent Claim
14 words
The method of claim 1, wherein the probes are labeled with digoxigenin or biotin.
Claim 6
Dependent Claim
21 words
The method of claim 1, wherein the step of detecting the hybridization complexes is carried out by detecting a fluorescent label.
Claim 7
Dependent Claim
11 words
The method of claim 5, wherein the fluorescent label is FITC.
Claim 8
Dependent Claim
17 words
The method of claim 1, wherein the hybridization complexes are detected in interphase nuclei in the sample.
Claim 9
Dependent Claim
27 words
The method of claim 1, further comprising contacting the sample with a reference probe which binds selectively to a sequence within the centromere of the preselected chromosome.
Claim 10
Independent Claim
85 words
A method of detecting an amplification at about position FLpter 0.85 on human chromosome 20, the method comprising: contacting a chromosome sample from a patient with a composition consisting essentially of one or more labeled nucleic acid probes each of which binds selectively to a target polynucleotide sequence at about position FLpter 0.85 on human chromosome 20 under conditions in which the probe forms a stable hybridization complex with the target sequence; detecting the hybridization complex, thereby detecting the presence or absence of the amplification.
Claim 11
Independent Claim
85 words
A method of detecting an amplification at about position FLpter 0.85 on human chromosome 20, the method comprising: contacting a chromosome sample from a patient with a composition consisting essentially of one or more labeled nucleic acid probes each of which binds selectively to a target polynucleotide sequence at about position FLpter 0.85 on human chromosome 20 under conditions in which the probe forms a stable hybridization complex with the target sequence; detecting the hybridization complex, thereby detecting the presence or absence of the amplification.
Claim 12
Dependent Claim
22 words
The method of claim 8, wherein the step of detecting the hybridization complex comprises determining the copy number of the target sequence.
Claim 13
Dependent Claim
14 words
The method of claim 8, wherein the probe is labeled with digoxigenin or biotin.
Claim 14
Dependent Claim
23 words
The method of claim 8, wherein the probe is selected from the group consisting of polynucleotide sequences from cS20.10A1, cS20.10B5, cS20.10H1, and cS20.10E2.
Claim 15
Dependent Claim
17 words
The method of claim 8, wherein the hybridization complex is detected in interphase nuclei in the sample.
Claim 16
Dependent Claim
21 words
The method of claim 8, further comprising contacting the sample with a reference probe which binds selectively to chromosome 20 centromere.
Claim 17
Dependent Claim
23 words
A composition comprising a nucleic acid probe which binds selectively to a target polynucleotide sequence at about FLpter 0.85 on human chromosome 20.
Claim 18
Dependent Claim
23 words
A composition comprising a nucleic acid probe which binds selectively to a target polynucleotide sequence at about FLpter 0.85 on human chromosome 20.
Claim 19
Dependent Claim
14 words
The composition of claim 14, wherein the probe is labelled with digoxigenin or biotin.
Claim 20
Dependent Claim
23 words
The composition of claim 14, wherein the probe is selected from the group consisting of polynucleotide sequences from cS20.10A1, cS20.10B5, cS20.10H1, and cS20.10E2.
References Cited (Backward Citations)
EP0403402A1
Cited
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