RU2013149142A - Маркеры, ассоциированные с признаком бета-талассемии - Google Patents
Маркеры, ассоциированные с признаком бета-талассемии Download PDFInfo
- Publication number
- RU2013149142A RU2013149142A RU2013149142/10A RU2013149142A RU2013149142A RU 2013149142 A RU2013149142 A RU 2013149142A RU 2013149142/10 A RU2013149142/10 A RU 2013149142/10A RU 2013149142 A RU2013149142 A RU 2013149142A RU 2013149142 A RU2013149142 A RU 2013149142A
- Authority
- RU
- Russia
- Prior art keywords
- nucleotide
- seq
- replaced
- exception
- indicator
- Prior art date
Links
- 208000005980 beta thalassemia Diseases 0.000 title claims 14
- 239000002773 nucleotide Substances 0.000 claims abstract 155
- 125000003729 nucleotide group Chemical group 0.000 claims abstract 155
- 238000006467 substitution reaction Methods 0.000 claims abstract 74
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims abstract 12
- 108020004707 nucleic acids Proteins 0.000 claims abstract 8
- 150000007523 nucleic acids Chemical class 0.000 claims abstract 8
- 102000039446 nucleic acids Human genes 0.000 claims abstract 8
- 238000004458 analytical method Methods 0.000 claims 9
- 238000000034 method Methods 0.000 claims 9
- 210000001519 tissue Anatomy 0.000 claims 6
- 108700028369 Alleles Proteins 0.000 claims 2
- 102000016911 Deoxyribonucleases Human genes 0.000 claims 2
- 108010053770 Deoxyribonucleases Proteins 0.000 claims 2
- 108010033040 Histones Proteins 0.000 claims 2
- 102000006947 Histones Human genes 0.000 claims 2
- 206010020751 Hypersensitivity Diseases 0.000 claims 2
- KDXKERNSBIXSRK-UHFFFAOYSA-N Lysine Natural products NCCCCC(N)C(O)=O KDXKERNSBIXSRK-UHFFFAOYSA-N 0.000 claims 2
- 239000004472 Lysine Substances 0.000 claims 2
- 108091034117 Oligonucleotide Proteins 0.000 claims 2
- 208000026935 allergic disease Diseases 0.000 claims 2
- 210000004369 blood Anatomy 0.000 claims 2
- 239000008280 blood Substances 0.000 claims 2
- 238000003205 genotyping method Methods 0.000 claims 2
- 230000009610 hypersensitivity Effects 0.000 claims 2
- 125000003588 lysine group Chemical group [H]N([H])C([H])([H])C([H])([H])C([H])([H])C([H])([H])C([H])(N([H])[H])C(*)=O 0.000 claims 2
- 210000000056 organ Anatomy 0.000 claims 2
- 238000007894 restriction fragment length polymorphism technique Methods 0.000 claims 2
- 238000012163 sequencing technique Methods 0.000 claims 2
- 102000004150 Flap endonucleases Human genes 0.000 claims 1
- 108090000652 Flap endonucleases Proteins 0.000 claims 1
- 101000829171 Hypocrea virens (strain Gv29-8 / FGSC 10586) Effector TSP1 Proteins 0.000 claims 1
- 108010000178 IGF-I-IGFBP-3 complex Proteins 0.000 claims 1
- 102000003960 Ligases Human genes 0.000 claims 1
- 108090000364 Ligases Proteins 0.000 claims 1
- 206010028980 Neoplasm Diseases 0.000 claims 1
- 238000010222 PCR analysis Methods 0.000 claims 1
- 238000011529 RT qPCR Methods 0.000 claims 1
- 238000001574 biopsy Methods 0.000 claims 1
- 210000001124 body fluid Anatomy 0.000 claims 1
- 239000010839 body fluid Substances 0.000 claims 1
- 238000005251 capillar electrophoresis Methods 0.000 claims 1
- 210000004027 cell Anatomy 0.000 claims 1
- 238000003776 cleavage reaction Methods 0.000 claims 1
- 238000003745 diagnosis Methods 0.000 claims 1
- 239000012634 fragment Substances 0.000 claims 1
- 230000002496 gastric effect Effects 0.000 claims 1
- 238000004128 high performance liquid chromatography Methods 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- 238000001155 isoelectric focusing Methods 0.000 claims 1
- 210000004185 liver Anatomy 0.000 claims 1
- 239000003550 marker Substances 0.000 claims 1
- 239000000203 mixture Substances 0.000 claims 1
- 210000003205 muscle Anatomy 0.000 claims 1
- 210000000944 nerve tissue Anatomy 0.000 claims 1
- 210000001672 ovary Anatomy 0.000 claims 1
- 210000000496 pancreas Anatomy 0.000 claims 1
- 210000003296 saliva Anatomy 0.000 claims 1
- 230000007017 scission Effects 0.000 claims 1
- 210000002966 serum Anatomy 0.000 claims 1
- 210000000952 spleen Anatomy 0.000 claims 1
- 210000002105 tongue Anatomy 0.000 claims 1
- 210000002700 urine Anatomy 0.000 claims 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
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161472228P | 2011-04-06 | 2011-04-06 | |
| US61/472,228 | 2011-04-06 | ||
| PCT/IB2012/051520 WO2012137110A1 (en) | 2011-04-06 | 2012-03-29 | Association markers for beta thalassemia trait |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| RU2013149142A true RU2013149142A (ru) | 2015-05-20 |
Family
ID=45937505
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| RU2013149142/10A RU2013149142A (ru) | 2011-04-06 | 2012-03-29 | Маркеры, ассоциированные с признаком бета-талассемии |
Country Status (7)
| Country | Link |
|---|---|
| US (1) | US20140148344A1 (enExample) |
| EP (1) | EP2694674A1 (enExample) |
| JP (1) | JP2014511691A (enExample) |
| CN (1) | CN103649332A (enExample) |
| BR (1) | BR112013025492A2 (enExample) |
| RU (1) | RU2013149142A (enExample) |
| WO (1) | WO2012137110A1 (enExample) |
Families Citing this family (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP6598450B2 (ja) * | 2014-10-28 | 2019-10-30 | 花王株式会社 | 皮膚性状判定のための遺伝子検出方法 |
| CN109300545B (zh) * | 2018-08-28 | 2021-06-18 | 昆明理工大学 | 一种基于rf的地中海贫血病的风险预警方法 |
| CN109346182B (zh) * | 2018-08-28 | 2021-06-18 | 昆明理工大学 | 一种基于cs-rf的地中海贫血病的风险预警方法 |
| CN111638261B (zh) * | 2020-04-17 | 2023-04-07 | 融智生物科技（青岛）有限公司 | 一种计算设备、存储介质和地中海贫血筛查装置及系统 |
| CN112708668B (zh) * | 2021-01-19 | 2022-10-18 | 中南大学 | Hsp70作为检测地中海贫血的分子标记物及其在制备诊断试剂盒中的应用 |
| CN115948531A (zh) * | 2022-08-09 | 2023-04-11 | 杭州金诺医学检验实验室有限公司 | 一种检测非缺失型地贫的引物组、方法及其应用 |
Family Cites Families (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO1993018178A1 (en) * | 1992-03-13 | 1993-09-16 | The Children's Hospital Of Philadelphia | DIAGNOSIS OF β-THALASSEMIA USING A MULTIPLEX AMPLIFICATION REFRACTORY MUTATION SYSTEM |
| ITRM20040081A1 (it) * | 2004-02-13 | 2004-05-13 | Biochemical Systems Internat | Sonde oligonucleotidiche per la diagnosi delle diverse forme di beta-talassemia e relativi metodi e kit diagnostici. |
-
2012
- 2012-03-29 CN CN201280016846.3A patent/CN103649332A/zh active Pending
- 2012-03-29 WO PCT/IB2012/051520 patent/WO2012137110A1/en not_active Ceased
- 2012-03-29 RU RU2013149142/10A patent/RU2013149142A/ru not_active Application Discontinuation
- 2012-03-29 EP EP12713376.7A patent/EP2694674A1/en not_active Withdrawn
- 2012-03-29 JP JP2014503245A patent/JP2014511691A/ja not_active Withdrawn
- 2012-03-29 US US14/007,673 patent/US20140148344A1/en not_active Abandoned
- 2012-03-29 BR BR112013025492A patent/BR112013025492A2/pt not_active IP Right Cessation
Also Published As
| Publication number | Publication date |
|---|---|
| EP2694674A1 (en) | 2014-02-12 |
| BR112013025492A2 (pt) | 2019-09-24 |
| WO2012137110A1 (en) | 2012-10-11 |
| US20140148344A1 (en) | 2014-05-29 |
| CN103649332A (zh) | 2014-03-19 |
| JP2014511691A (ja) | 2014-05-19 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FA92 | Acknowledgement of application withdrawn (lack of supplementary materials submitted) |
Effective date: 20161116 |