ZA200100124B - Method for determining polynucleotide sequence variations. - Google Patents
Method for determining polynucleotide sequence variations. Download PDFInfo
- Publication number
- ZA200100124B ZA200100124B ZA200100124A ZA200100124A ZA200100124B ZA 200100124 B ZA200100124 B ZA 200100124B ZA 200100124 A ZA200100124 A ZA 200100124A ZA 200100124 A ZA200100124 A ZA 200100124A ZA 200100124 B ZA200100124 B ZA 200100124B
- Authority
- ZA
- South Africa
- Prior art keywords
- label
- terminator
- primer
- polynucleotide
- labeled
- Prior art date
Links
- 108091033319 polynucleotide Proteins 0.000 title claims abstract description 153
- 239000002157 polynucleotide Substances 0.000 title claims abstract description 153
- 102000040430 polynucleotide Human genes 0.000 title claims abstract description 153
- 238000000034 method Methods 0.000 title claims abstract description 124
- 239000002773 nucleotide Substances 0.000 claims abstract description 79
- 239000012634 fragment Substances 0.000 claims abstract description 78
- 238000006243 chemical reaction Methods 0.000 claims abstract description 55
- 125000003729 nucleotide group Chemical group 0.000 claims abstract description 55
- 230000003321 amplification Effects 0.000 claims abstract description 39
- 238000003199 nucleic acid amplification method Methods 0.000 claims abstract description 39
- 235000011178 triphosphate Nutrition 0.000 claims description 28
- 239000001226 triphosphate Substances 0.000 claims description 28
- 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 12
- 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 12
- 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 11
- 238000004519 manufacturing process Methods 0.000 claims description 10
- URGJWIFLBWJRMF-JGVFFNPUSA-N ddTTP Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)CC1 URGJWIFLBWJRMF-JGVFFNPUSA-N 0.000 claims description 9
- 238000003757 reverse transcription PCR Methods 0.000 claims description 7
- 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
- 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 5
- 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 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
- 125000002264 triphosphate group Chemical class [H]OP(=O)(O[H])OP(=O)(O[H])OP(=O)(O[H])O* 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
- 102000039446 nucleic acids Human genes 0.000 claims description 3
- 108020004707 nucleic acids Proteins 0.000 claims description 3
- 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 24
- 239000007795 chemical reaction product Substances 0.000 claims 2
- 239000004927 clay Substances 0.000 claims 1
- 239000011541 reaction mixture Substances 0.000 description 14
- 108091028043 Nucleic acid sequence Proteins 0.000 description 7
- 238000004458 analytical method Methods 0.000 description 7
- 108020004414 DNA Proteins 0.000 description 5
- 201000010099 disease Diseases 0.000 description 5
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 5
- 238000000746 purification Methods 0.000 description 4
- 108700028369 Alleles Proteins 0.000 description 3
- 239000000872 buffer Substances 0.000 description 3
- 150000001768 cations Chemical class 0.000 description 3
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 2
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 2
- LFQSCWFLJHTTHZ-UHFFFAOYSA-N Ethanol Chemical compound CCO LFQSCWFLJHTTHZ-UHFFFAOYSA-N 0.000 description 2
- KFZMGEQAYNKOFK-UHFFFAOYSA-N Isopropanol Chemical compound CC(C)O KFZMGEQAYNKOFK-UHFFFAOYSA-N 0.000 description 2
- 101710163270 Nuclease Proteins 0.000 description 2
- 238000003776 cleavage reaction Methods 0.000 description 2
- UFJPAQSLHAGEBL-RRKCRQDMSA-N dITP Chemical compound O1[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)C[C@@H]1N1C(N=CNC2=O)=C2N=C1 UFJPAQSLHAGEBL-RRKCRQDMSA-N 0.000 description 2
- 238000012217 deletion Methods 0.000 description 2
- 230000037430 deletion Effects 0.000 description 2
- 239000005546 dideoxynucleotide Substances 0.000 description 2
- 238000005516 engineering process Methods 0.000 description 2
- 238000003780 insertion Methods 0.000 description 2
- 230000037431 insertion Effects 0.000 description 2
- 102000054765 polymorphisms of proteins Human genes 0.000 description 2
- 230000007017 scission Effects 0.000 description 2
- 239000002904 solvent Substances 0.000 description 2
- 239000000126 substance Substances 0.000 description 2
- 238000006467 substitution reaction Methods 0.000 description 2
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Substances O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 2
- 241000894006 Bacteria Species 0.000 description 1
- 238000001712 DNA sequencing Methods 0.000 description 1
- 102000004533 Endonucleases Human genes 0.000 description 1
- 108010042407 Endonucleases Proteins 0.000 description 1
- 108060002716 Exonuclease Proteins 0.000 description 1
- 108091027305 Heteroduplex Proteins 0.000 description 1
- TWRXJAOTZQYOKJ-UHFFFAOYSA-L Magnesium chloride Chemical compound [Mg+2].[Cl-].[Cl-] TWRXJAOTZQYOKJ-UHFFFAOYSA-L 0.000 description 1
- GLFNIEUTAYBVOC-UHFFFAOYSA-L Manganese chloride Chemical compound Cl[Mn]Cl GLFNIEUTAYBVOC-UHFFFAOYSA-L 0.000 description 1
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 1
- 102000006382 Ribonucleases Human genes 0.000 description 1
- 108010083644 Ribonucleases Proteins 0.000 description 1
- 239000007984 Tris EDTA buffer Substances 0.000 description 1
- 239000007983 Tris buffer Substances 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 238000003491 array Methods 0.000 description 1
- 238000003556 assay Methods 0.000 description 1
- 230000004888 barrier function Effects 0.000 description 1
- 239000011324 bead Substances 0.000 description 1
- 230000003139 buffering effect Effects 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 210000000349 chromosome Anatomy 0.000 description 1
- 230000008602 contraction Effects 0.000 description 1
- 230000003413 degradative effect Effects 0.000 description 1
- 238000004925 denaturation Methods 0.000 description 1
- 230000036425 denaturation Effects 0.000 description 1
- 238000003935 denaturing gradient gel electrophoresis Methods 0.000 description 1
- 238000001514 detection method Methods 0.000 description 1
- 230000007613 environmental effect Effects 0.000 description 1
- 238000001704 evaporation Methods 0.000 description 1
- 230000008020 evaporation Effects 0.000 description 1
- 102000013165 exonuclease Human genes 0.000 description 1
- 238000007429 general method Methods 0.000 description 1
- 230000007614 genetic variation Effects 0.000 description 1
- 238000003205 genotyping method Methods 0.000 description 1
- 238000009396 hybridization Methods 0.000 description 1
- 238000010348 incorporation Methods 0.000 description 1
- 238000002372 labelling Methods 0.000 description 1
- 239000012528 membrane Substances 0.000 description 1
- 239000002480 mineral oil Substances 0.000 description 1
- 235000010446 mineral oil Nutrition 0.000 description 1
- 230000035772 mutation Effects 0.000 description 1
- 239000012188 paraffin wax Substances 0.000 description 1
- 230000008506 pathogenesis Effects 0.000 description 1
- 238000002264 polyacrylamide gel electrophoresis Methods 0.000 description 1
- 238000007692 polyacrylamide-agarose gel electrophoresis Methods 0.000 description 1
- 238000011176 pooling Methods 0.000 description 1
- 238000001556 precipitation Methods 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 238000012163 sequencing technique Methods 0.000 description 1
- 239000000243 solution Substances 0.000 description 1
- 239000000758 substrate Substances 0.000 description 1
- 230000000153 supplemental effect Effects 0.000 description 1
- 230000002194 synthesizing effect Effects 0.000 description 1
- 238000002560 therapeutic procedure Methods 0.000 description 1
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical group CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 1
- LENZDBCJOHFCAS-UHFFFAOYSA-N tris Chemical compound 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)
- Physics & Mathematics (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Analytical Chemistry (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 (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US9713698P | 1998-08-19 | 1998-08-19 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ZA200100124B true ZA200100124B (en) | 2001-08-03 |
Family
ID=22261392
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ZA200100124A ZA200100124B (en) | 1998-08-19 | 2001-01-05 | 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 |
|---|---|---|---|---|
| US20030138834A1 (en) * | 1998-08-19 | 2003-07-24 | Dawson Elliott P. | Method for determining polynucleotide sequence variations |
| US20040121394A1 (en) * | 1998-08-19 | 2004-06-24 | Dawson Elliott P. | Method for determining polynucleotide sequence variations |
| EP1368497A4 (en) * | 2001-03-12 | 2007-08-15 | California Inst Of Techn | METHODS AND APPARATUS FOR ANALYZING ASYNCHRONOUS BASE EXTENSION POLYNUCLEOTIDE SEQUENCES |
| US9261460B2 (en) * | 2002-03-12 | 2016-02-16 | Enzo Life Sciences, Inc. | Real-time nucleic acid detection processes and compositions |
| JP4436672B2 (ja) | 2001-07-11 | 2010-03-24 | アプライド バイオシステムズ， エルエルシー | 電気泳動分析のための内部較正標準 |
| EP1442137A4 (en) | 2001-11-07 | 2005-08-31 | Applera Corp | 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 |
| DE602005020011D1 (de) * | 2004-06-10 | 2010-04-29 | Ge Healthcare Bio Sciences | Verfahren zur nukleinsäureanalyse |
| EP1798291B1 (en) * | 2005-12-13 | 2011-05-18 | Institut Curie | Methods and compositions for assaying mutations and/or large scale alterations in nucleic acids and their uses in diagnosis of genetic diseases and cancers |
| IT1397110B1 (it) * | 2008-12-29 | 2012-12-28 | St Microelectronics Rousset | Microreattore autosigillante e metodo per eseguire una reazione |
| CN105874460B (zh) * | 2013-11-01 | 2018-10-02 | 精赛恩公司 | 识别靶序列的至少一个碱基的方法、可读介质及设备 |
| 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 |
| US5891628A (en) | 1994-06-03 | 1999-04-06 | 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 IL IL14132999A patent/IL141329A/xx not_active IP Right Cessation
- 1999-08-19 CN CNB99809692XA patent/CN1197975C/zh not_active Expired - Fee Related
- 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 US US09/719,130 patent/US6322988B1/en not_active Expired - Fee Related
- 1999-08-19 JP JP2000566472A patent/JP3949378B2/ja not_active Expired - Fee Related
- 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
- 1999-08-19 WO PCT/US1999/018965 patent/WO2000011221A1/en not_active Ceased
- 1999-08-19 CA CA002336546A patent/CA2336546A1/en not_active Abandoned
-
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 |
|---|---|
| DE69928409D1 (de) | 2005-12-22 |
| ATE310103T1 (de) | 2005-12-15 |
| US6322988B1 (en) | 2001-11-27 |
| AU737087B2 (en) | 2001-08-09 |
| JP3949378B2 (ja) | 2007-07-25 |
| IL141329A0 (en) | 2002-03-10 |
| WO2000011221A1 (en) | 2000-03-02 |
| IS5847A (is) | 2001-02-16 |
| CN1312859A (zh) | 2001-09-12 |
| EP1105537A1 (en) | 2001-06-13 |
| US20020164606A1 (en) | 2002-11-07 |
| JP2002523062A (ja) | 2002-07-30 |
| AU737087C (en) | 2005-05-12 |
| IL141329A (en) | 2005-07-25 |
| HK1040265A1 (en) | 2002-05-31 |
| AU5681399A (en) | 2000-03-14 |
| CN1197975C (zh) | 2005-04-20 |
| EP1105537B1 (en) | 2005-11-16 |
| EP1105537A4 (en) | 2002-08-14 |
| CA2336546A1 (en) | 2000-03-02 |
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