US6812339B1
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Polymorphisms in known genes associated with human disease, methods of detection and uses thereof
Assignee: Celera Corp
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Filing: 2001-09-10
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Granted: 2004-11-02
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Expires: 2021-09-10
Abstract
Abstract The present invention is based on the discovery of novel polymorphisms (SNPs) in the genes known in the art to contribute to human disease. Such polymorphisms can lead to a variety of disorders that are mediated/modulated by a variant human disease associated protein. The present invention provides reagents used for detecting and expressing the variant nucleic acid/protein sequence as well as methods of identifying and using these variants.
Inventors
- 👤 J. Craig Venter
- 👤 Jinghui N. Zhang
- 👤 Xiangjun Liu
- 👤 William Rowe
- 👤 Anibal Cravchik
- 👤 Francis Kalush
- 👤 Ashwinikumar Naik
- 👤 Gangadharan Subramanian
- 👤 Trevor Woodage
Bibliographic Details
Application Number
—
Jurisdiction
US
Data Source
google_patents
Last Synchronized
2026-11-05 07:39
CPC Classifications
C; C12; C12Q; C12Q1/00; C12Q1/68; C12Q1/6876; C12Q1/6883; C12Q2600/00; C12Q2600/156
Claims Analysis
Total Claims: 31
Claim 1
Independent Claim
127 words
A detection reagent selected from the group consisting of: (a) a detection reagent consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 15 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 15 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’, (b) a detection reagent consisting of segment of SEQ ID NO:12025, wherein the segment comprises at least 15 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 15 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’, and (c) a detection reagent which is entirely complementary to the detection reagent of (a) or (b).
Claim 2
Dependent Claim
127 words
A detection reagent selected from the group consisting of: (a) a detection reagent consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 15 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 15 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’, (b) a detection reagent consisting of segment of SEQ ID NO:12025, wherein the segment comprises at least 15 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 15 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’, and (c) a detection reagent which is entirely complementary to the detection reagent of (a) or (b).
Claim 3
Dependent Claim
128 words
An isolated polynucleotide selected from the group consisting of: (a) an isolated polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) an isolated polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and c) an isolated polynucleotide which is entirely complementary to the isolated polynucleotide of (a) or (b).
Claim 4
Dependent Claim
128 words
An isolated polynucleotide selected from the group consisting of: (a) an isolated polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) an isolated polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and c) an isolated polynucleotide which is entirely complementary to the isolated polynucleotide of (a) or (b).
Claim 5
Dependent Claim
128 words
A detection reagent selected from the group consisting of: (a) a detection reagent consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO23778 is ‘G’; (a) a detection reagent consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) a detection reagent which is entirely complementary to the detection reagent of (a) or (b).
Claim 6
Dependent Claim
128 words
A detection reagent selected from the group consisting of: (a) a detection reagent consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO23778 is ‘G’; (a) a detection reagent consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) a detection reagent which is entirely complementary to the detection reagent of (a) or (b).
Claim 7
Dependent Claim
65 words
An isolated polynucleotide consisting of a nucleotide sequence selected from the group consisting of: (a) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) a nucleotide sequence which is entirely complementary to the nucleotide sequence of (a) or (b).
Claim 8
Dependent Claim
65 words
An isolated polynucleotide consisting of a nucleotide sequence selected from the group consisting of: (a) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) a nucleotide sequence which is entirely complementary to the nucleotide sequence of (a) or (b).
Claim 9
Dependent Claim
71 words
An isolated polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises a nucleotide sequence selected from due group consisting of: (a) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) a nucleotide sequence which is entirely complementary to (a) or (b).
Claim 10
Dependent Claim
71 words
An isolated polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises a nucleotide sequence selected from due group consisting of: (a) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) the nucleotide sequence of SEQ ID NO:23778, wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) a nucleotide sequence which is entirely complementary to (a) or (b).
Claim 11
Dependent Claim
128 words
An amplified polynucleotide selected from the group consisting of: (a) an amplified polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 30 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 30 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) an amplified polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 30 contiguous nucleotide of SEQ ID NO:23778, and wherein the at least 30 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) an amplified polynucleotide which is entirely conplementary to the amplified polynucleotide of (a) or (b).
Claim 12
Dependent Claim
128 words
An amplified polynucleotide selected from the group consisting of: (a) an amplified polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 30 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 30 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’; (b) an amplified polynucleotide consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 30 contiguous nucleotide of SEQ ID NO:23778, and wherein the at least 30 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’; and (c) an amplified polynucleotide which is entirely conplementary to the amplified polynucleotide of (a) or (b).
Claim 13
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ end of the extension primer; and (b) an extension primer which is entirely complementary to the extension primer of (a).
Claim 14
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ end of the extension primer; and (b) an extension primer which is entirely complementary to the extension primer of (a).
Claim 15
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ and of the extension primer; and (b) an extension primer which is entirely complememtary to the extension prime of (a).
Claim 16
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘G’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ and of the extension primer; and (b) an extension primer which is entirely complememtary to the extension prime of (a).
Claim 17
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23779, and further wherein nucleating 301 of SEQ ID NO:23778 is ‘A’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ and of the extension primer; and (b) an extension primer which is entirety complementary to the extension primer of (a).
Claim 18
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 12 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23779, and further wherein nucleating 301 of SEQ ID NO:23778 is ‘A’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ and of the extension primer; and (b) an extension primer which is entirety complementary to the extension primer of (a).
Claim 19
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ end of the extension primer; and (b) an extension primer which is entirely complementary to the extension primer of (a).
Claim 20
Dependent Claim
95 words
An extension primer selected from the group consisting of: (a) an extension primer consisting of a segment of SEQ ID NO:12025, wherein the segment comprises at least 20 contiguous nucleotides of SEQ ID NO:23778, and wherein the at least 20 contiguous nucleotides include nucleotide 301 of SEQ ID NO:23778, and further wherein nucleotide 301 of SEQ ID NO:23778 is ‘A’, and further wherein nucleotide 301 of SEQ ID NO:23778 is a ddNTP at the 3′ end of the extension primer; and (b) an extension primer which is entirely complementary to the extension primer of (a).
Claim 21
Dependent Claim
23 words
The extension primer of any one of claim 7 , 8 , 9 , or 10 , wherein the ddNTP is detectably labeled.
Claim 22
Dependent Claim
16 words
The extension primer of claim 11 , wherein the ddNTP is labeled with a mass tag.
Claim 23
Dependent Claim
21 words
The detection reagent of claim 1 wherein nucleotide 301 of SEQ ID NO:23778 is at the center of the detection reagent.
Claim 24
Dependent Claim
22 words
The detection reagent of claim 1 wherein nucleotide 301 of SEQ ID NO:23778 is at the 3′ end of the detection reagent.
Claim 25
Dependent Claim
13 words
The detection reagent of claim 1 wherein the detection reagent is detectably labeled.
Claim 26
Dependent Claim
16 words
The detection reagent of claim 15 , wherein the detection reagent is labeled with a reporter.
Claim 27
Dependent Claim
12 words
The detection reagent of claim 16 , wherein the reporter is fluorescent.
Claim 28
Dependent Claim
16 words
The detection reagent of 16 , wherein the detection reagent is further labeled with a quencher.
Claim 29
Dependent Claim
16 words
The detection reagent of 16 , wherein the detection reagent is further labeled with a quencher.
Claim 30
Dependent Claim
17 words
The detection reagent of claim 1 , wherein the detection reagent is bound to a solid support.
Claim 31
Dependent Claim
16 words
The detection reagent of claim 19 , wherein the solid support comprises a nucleic acid array.
References Cited (Backward Citations)
No citation records indexed.
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