CA2336546A1 - Method for determining polynucleotide sequence variations - Google Patents
Method for determining polynucleotide sequence variations Download PDFInfo
- Publication number
- CA2336546A1 CA2336546A1 CA002336546A CA2336546A CA2336546A1 CA 2336546 A1 CA2336546 A1 CA 2336546A1 CA 002336546 A CA002336546 A CA 002336546A CA 2336546 A CA2336546 A CA 2336546A CA 2336546 A1 CA2336546 A1 CA 2336546A1
- Authority
- CA
- Canada
- Prior art keywords
- label
- terminator
- primer
- labeled
- polynucleotide
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Abandoned
Links
- 108091033319 polynucleotide Proteins 0.000 title claims abstract description 159
- 239000002157 polynucleotide Substances 0.000 title claims abstract description 159
- 102000040430 polynucleotide Human genes 0.000 title claims abstract description 159
- 238000000034 method Methods 0.000 title claims abstract description 150
- 239000012634 fragment Substances 0.000 claims abstract description 96
- 238000006243 chemical reaction Methods 0.000 claims abstract description 86
- 239000002773 nucleotide Substances 0.000 claims abstract description 84
- 125000003729 nucleotide group Chemical group 0.000 claims abstract description 57
- 230000003321 amplification Effects 0.000 claims abstract description 36
- 238000003199 nucleic acid amplification method Methods 0.000 claims abstract description 36
- 239000007795 chemical reaction product Substances 0.000 claims description 48
- 239000001226 triphosphate Substances 0.000 claims description 33
- 235000011178 triphosphate Nutrition 0.000 claims description 33
- HDRRAMINWIWTNU-NTSWFWBYSA-N [[(2s,5r)-5-(2-amino-6-oxo-3h-purin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl] phosphono hydrogen phosphate Chemical compound C1=2NC(N)=NC(=O)C=2N=CN1[C@H]1CC[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 HDRRAMINWIWTNU-NTSWFWBYSA-N 0.000 claims description 18
- OAKPWEUQDVLTCN-NKWVEPMBSA-N 2',3'-Dideoxyadenosine-5-triphosphate Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@H]1CC[C@@H](CO[P@@](O)(=O)O[P@](O)(=O)OP(O)(O)=O)O1 OAKPWEUQDVLTCN-NKWVEPMBSA-N 0.000 claims description 16
- ARLKCWCREKRROD-POYBYMJQSA-N [[(2s,5r)-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl] phosphono hydrogen phosphate Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)CC1 ARLKCWCREKRROD-POYBYMJQSA-N 0.000 claims description 16
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- 238000004519 manufacturing process Methods 0.000 claims description 11
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- RGWHQCVHVJXOKC-SHYZEUOFSA-J dCTP(4-) Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](COP([O-])(=O)OP([O-])(=O)OP([O-])([O-])=O)[C@@H](O)C1 RGWHQCVHVJXOKC-SHYZEUOFSA-J 0.000 claims description 6
- HAAZLUGHYHWQIW-KVQBGUIXSA-N dGTP Chemical compound C1=NC=2C(=O)NC(N)=NC=2N1[C@H]1C[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 HAAZLUGHYHWQIW-KVQBGUIXSA-N 0.000 claims description 6
- 238000012546 transfer Methods 0.000 claims description 6
- OTXOHOIOFJSIFX-POYBYMJQSA-N [[(2s,5r)-5-(2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl] phosphono hydrogen phosphate Chemical compound O1[C@H](COP(O)(=O)OP(O)(=O)OP(O)(=O)O)CC[C@@H]1N1C(=O)NC(=O)C=C1 OTXOHOIOFJSIFX-POYBYMJQSA-N 0.000 claims description 5
- SUYVUBYJARFZHO-RRKCRQDMSA-N dATP Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@H]1C[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 SUYVUBYJARFZHO-RRKCRQDMSA-N 0.000 claims description 5
- SUYVUBYJARFZHO-UHFFFAOYSA-N dATP Natural products C1=NC=2C(N)=NC=NC=2N1C1CC(O)C(COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 SUYVUBYJARFZHO-UHFFFAOYSA-N 0.000 claims description 5
- NHVNXKFIZYSCEB-XLPZGREQSA-N dTTP Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)C1 NHVNXKFIZYSCEB-XLPZGREQSA-N 0.000 claims description 4
- AHCYMLUZIRLXAA-SHYZEUOFSA-N Deoxyuridine 5'-triphosphate Chemical compound O1[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)C[C@@H]1N1C(=O)NC(=O)C=C1 AHCYMLUZIRLXAA-SHYZEUOFSA-N 0.000 claims description 3
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- 150000007523 nucleic acids Chemical class 0.000 claims description 3
- 239000002213 purine nucleotide Substances 0.000 claims description 3
- 150000003212 purines Chemical class 0.000 claims description 3
- 239000002719 pyrimidine nucleotide Substances 0.000 claims description 3
- 150000003230 pyrimidines Chemical class 0.000 claims description 3
- -1 nucleotide triphosphates Chemical class 0.000 claims 27
- 239000011541 reaction mixture Substances 0.000 description 28
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- 150000001768 cations Chemical class 0.000 description 3
- VYXSBFYARXAAKO-WTKGSRSZSA-N chembl402140 Chemical compound Cl.C1=2C=C(C)C(NCC)=CC=2OC2=C\C(=N/CC)C(C)=CC2=C1C1=CC=CC=C1C(=O)OCC VYXSBFYARXAAKO-WTKGSRSZSA-N 0.000 description 3
- 230000001351 cycling effect Effects 0.000 description 3
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- 108060002716 Exonuclease Proteins 0.000 description 1
- 108091027305 Heteroduplex Proteins 0.000 description 1
- 101000690100 Homo sapiens U1 small nuclear ribonucleoprotein 70 kDa Proteins 0.000 description 1
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- GLFNIEUTAYBVOC-UHFFFAOYSA-L Manganese chloride Chemical compound Cl[Mn]Cl GLFNIEUTAYBVOC-UHFFFAOYSA-L 0.000 description 1
- NQTADLQHYWFPDB-UHFFFAOYSA-N N-Hydroxysuccinimide Chemical class ON1C(=O)CCC1=O NQTADLQHYWFPDB-UHFFFAOYSA-N 0.000 description 1
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 1
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- 102100024121 U1 small nuclear ribonucleoprotein 70 kDa Human genes 0.000 description 1
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- PYWVYCXTNDRMGF-UHFFFAOYSA-N rhodamine B Chemical compound [Cl-].C=12C=CC(=[N+](CC)CC)C=C2OC2=CC(N(CC)CC)=CC=C2C=1C1=CC=CC=C1C(O)=O PYWVYCXTNDRMGF-UHFFFAOYSA-N 0.000 description 1
- 239000001632 sodium acetate Substances 0.000 description 1
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- ANRHNWWPFJCPAZ-UHFFFAOYSA-M thionine Chemical compound [Cl-].C1=CC(N)=CC2=[S+]C3=CC(N)=CC=C3N=C21 ANRHNWWPFJCPAZ-UHFFFAOYSA-M 0.000 description 1
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical group CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 1
- 108091006106 transcriptional activators Proteins 0.000 description 1
- LENZDBCJOHFCAS-UHFFFAOYSA-N tris Chemical group OCC(N)(CO)CO LENZDBCJOHFCAS-UHFFFAOYSA-N 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6869—Methods for sequencing
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Biotechnology (AREA)
- Molecular Biology (AREA)
- Biophysics (AREA)
- Analytical Chemistry (AREA)
- Physics & Mathematics (AREA)
- Immunology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Error Detection And Correction (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US9713698P | 1998-08-19 | 1998-08-19 | |
| US60/097,136 | 1998-08-19 | ||
| PCT/US1999/018965 WO2000011221A1 (en) | 1998-08-19 | 1999-08-19 | Method for determining polynucleotide sequence variations |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2336546A1 true CA2336546A1 (en) | 2000-03-02 |
Family
ID=22261392
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA002336546A Abandoned CA2336546A1 (en) | 1998-08-19 | 1999-08-19 | Method for determining polynucleotide sequence variations |
Country Status (12)
| Country | Link |
|---|---|
| US (2) | US6322988B1 (enExample) |
| EP (1) | EP1105537B1 (enExample) |
| JP (1) | JP3949378B2 (enExample) |
| CN (1) | CN1197975C (enExample) |
| AT (1) | ATE310103T1 (enExample) |
| AU (1) | AU737087C (enExample) |
| CA (1) | CA2336546A1 (enExample) |
| DE (1) | DE69928409D1 (enExample) |
| IL (1) | IL141329A (enExample) |
| IS (1) | IS5847A (enExample) |
| WO (1) | WO2000011221A1 (enExample) |
| ZA (1) | ZA200100124B (enExample) |
Families Citing this family (13)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20040121394A1 (en) * | 1998-08-19 | 2004-06-24 | Dawson Elliott P. | Method for determining polynucleotide sequence variations |
| US20030138834A1 (en) * | 1998-08-19 | 2003-07-24 | Dawson Elliott P. | Method for determining polynucleotide sequence variations |
| JP2004523243A (ja) * | 2001-03-12 | 2004-08-05 | カリフォルニア インスティチュート オブ テクノロジー | 非同期性塩基伸長によってポリヌクレオチド配列を分析するための方法および装置 |
| US9261460B2 (en) | 2002-03-12 | 2016-02-16 | Enzo Life Sciences, Inc. | Real-time nucleic acid detection processes and compositions |
| WO2003006692A1 (en) | 2001-07-11 | 2003-01-23 | Applera Corporation | Internal calibration standards for electrophoretic analyses |
| WO2003040395A2 (en) | 2001-11-07 | 2003-05-15 | Applera Corporation | Universal nucleotides for nucleic acid analysis |
| US9353405B2 (en) | 2002-03-12 | 2016-05-31 | Enzo Life Sciences, Inc. | Optimized real time nucleic acid detection processes |
| US7189512B2 (en) * | 2003-02-20 | 2007-03-13 | Noga Porat | Methods for variation detection |
| CA2567591C (en) * | 2004-06-10 | 2011-08-02 | Ge Healthcare Bio-Sciences Corp. | Method for nucleic acid sequencing in the absence of divalent metal ion |
| ATE510025T1 (de) * | 2005-12-13 | 2011-06-15 | Inst Curie | Verfahren für die detektion von mutationen in nukleinsaüren, und die anwendung in der diagnose von genetischen krankheiten und krebs |
| IT1397110B1 (it) * | 2008-12-29 | 2012-12-28 | St Microelectronics Rousset | Microreattore autosigillante e metodo per eseguire una reazione |
| WO2015062184A1 (en) * | 2013-11-01 | 2015-05-07 | Accurascience, Llc | Method and apparatus for calling single-nucleotide variations and other variations |
| CN114724628B (zh) * | 2022-04-24 | 2022-11-08 | 华中农业大学 | 一种对多物种进行多核苷酸变异鉴定和注释的方法 |
Family Cites Families (7)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5683869A (en) | 1993-09-03 | 1997-11-04 | Duke University | Method of nucleic acid sequencing |
| AU2766195A (en) * | 1994-06-03 | 1996-01-05 | Brigham And Women's Hospital | Identification of polycystic kidney disease gene, diagnostics and treatment |
| US5830657A (en) * | 1996-05-01 | 1998-11-03 | Visible Genetics Inc. | Method for single-tube sequencing of nucleic acid polymers |
| US6432634B1 (en) * | 1996-04-18 | 2002-08-13 | Visible Genetics Inc. | Method, apparatus and kits for sequencing of nucleic acids using multiple dyes |
| US5847162A (en) * | 1996-06-27 | 1998-12-08 | The Perkin Elmer Corporation | 4, 7-Dichlororhodamine dyes |
| US5928906A (en) * | 1996-05-09 | 1999-07-27 | Sequenom, Inc. | Process for direct sequencing during template amplification |
| US5846727A (en) * | 1996-06-06 | 1998-12-08 | Board Of Supervisors Of Louisiana State University And Agricultural & Mechanical College | Microsystem for rapid DNA sequencing |
-
1999
- 1999-08-19 AU AU56813/99A patent/AU737087C/en not_active Ceased
- 1999-08-19 EP EP99943782A patent/EP1105537B1/en not_active Expired - Lifetime
- 1999-08-19 IL IL14132999A patent/IL141329A/xx not_active IP Right Cessation
- 1999-08-19 US US09/719,130 patent/US6322988B1/en not_active Expired - Fee Related
- 1999-08-19 WO PCT/US1999/018965 patent/WO2000011221A1/en not_active Ceased
- 1999-08-19 JP JP2000566472A patent/JP3949378B2/ja not_active Expired - Fee Related
- 1999-08-19 CN CNB99809692XA patent/CN1197975C/zh not_active Expired - Fee Related
- 1999-08-19 CA CA002336546A patent/CA2336546A1/en not_active Abandoned
- 1999-08-19 AT AT99943782T patent/ATE310103T1/de not_active IP Right Cessation
- 1999-08-19 DE DE69928409T patent/DE69928409D1/de not_active Expired - Lifetime
-
2001
- 2001-01-05 ZA ZA200100124A patent/ZA200100124B/en unknown
- 2001-02-16 IS IS5847A patent/IS5847A/is unknown
- 2001-11-26 US US09/994,119 patent/US20020164606A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| JP3949378B2 (ja) | 2007-07-25 |
| JP2002523062A (ja) | 2002-07-30 |
| US6322988B1 (en) | 2001-11-27 |
| EP1105537B1 (en) | 2005-11-16 |
| AU5681399A (en) | 2000-03-14 |
| AU737087C (en) | 2005-05-12 |
| CN1197975C (zh) | 2005-04-20 |
| IL141329A (en) | 2005-07-25 |
| AU737087B2 (en) | 2001-08-09 |
| US20020164606A1 (en) | 2002-11-07 |
| IL141329A0 (en) | 2002-03-10 |
| DE69928409D1 (de) | 2005-12-22 |
| ZA200100124B (en) | 2001-08-03 |
| ATE310103T1 (de) | 2005-12-15 |
| CN1312859A (zh) | 2001-09-12 |
| WO2000011221A1 (en) | 2000-03-02 |
| EP1105537A1 (en) | 2001-06-13 |
| EP1105537A4 (en) | 2002-08-14 |
| IS5847A (is) | 2001-02-16 |
| HK1040265A1 (en) | 2002-05-31 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request | ||
| FZDE | Discontinued |