JP2007525998A5 - - Google Patents
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- Publication number
- JP2007525998A5 JP2007525998A5 JP2007502004A JP2007502004A JP2007525998A5 JP 2007525998 A5 JP2007525998 A5 JP 2007525998A5 JP 2007502004 A JP2007502004 A JP 2007502004A JP 2007502004 A JP2007502004 A JP 2007502004A JP 2007525998 A5 JP2007525998 A5 JP 2007525998A5
- Authority
- JP
- Japan
- Prior art keywords
- dna
- target
- complementary
- repeats
- region
- 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.)
- Withdrawn
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- 108020004414 DNA Proteins 0.000 claims 15
- 230000000295 complement effect Effects 0.000 claims 11
- 230000000692 anti-sense effect Effects 0.000 claims 10
- 108091034117 Oligonucleotide Proteins 0.000 claims 8
- 238000003752 polymerase chain reaction Methods 0.000 claims 8
- 238000000034 method Methods 0.000 claims 7
- 108020004707 nucleic acids Proteins 0.000 claims 7
- 150000007523 nucleic acids Chemical class 0.000 claims 7
- 102000039446 nucleic acids Human genes 0.000 claims 7
- 239000000523 sample Substances 0.000 claims 6
- 239000013077 target material Substances 0.000 claims 6
- 239000013068 control sample Substances 0.000 claims 5
- 238000002493 microarray Methods 0.000 claims 5
- 108060002716 Exonuclease Proteins 0.000 claims 4
- 101000828537 Homo sapiens Synaptic functional regulator FMR1 Proteins 0.000 claims 4
- 102000013165 exonuclease Human genes 0.000 claims 4
- 208000001914 Fragile X syndrome Diseases 0.000 claims 3
- 229910019142 PO4 Inorganic materials 0.000 claims 3
- 239000007850 fluorescent dye Substances 0.000 claims 3
- 230000035772 mutation Effects 0.000 claims 3
- 239000002773 nucleotide Substances 0.000 claims 3
- 125000003729 nucleotide group Chemical group 0.000 claims 3
- 239000010452 phosphate Substances 0.000 claims 3
- YBJHBAHKTGYVGT-ZKWXMUAHSA-N (+)-Biotin Chemical compound N1C(=O)N[C@@H]2[C@H](CCCCC(=O)O)SC[C@@H]21 YBJHBAHKTGYVGT-ZKWXMUAHSA-N 0.000 claims 2
- 108020003215 DNA Probes Proteins 0.000 claims 2
- 239000003298 DNA probe Substances 0.000 claims 2
- 210000001766 X chromosome Anatomy 0.000 claims 2
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 claims 2
- 210000000349 chromosome Anatomy 0.000 claims 2
- 238000009396 hybridization Methods 0.000 claims 2
- NBIIXXVUZAFLBC-UHFFFAOYSA-K phosphate Chemical compound [O-]P([O-])([O-])=O NBIIXXVUZAFLBC-UHFFFAOYSA-K 0.000 claims 2
- 239000007790 solid phase Substances 0.000 claims 2
- 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 1
- 238000007900 DNA-DNA hybridization Methods 0.000 claims 1
- 108090000790 Enzymes Proteins 0.000 claims 1
- 102000004190 Enzymes Human genes 0.000 claims 1
- 108091092878 Microsatellite Proteins 0.000 claims 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 claims 1
- 108091081021 Sense strand Proteins 0.000 claims 1
- 229960002685 biotin Drugs 0.000 claims 1
- 235000020958 biotin Nutrition 0.000 claims 1
- 239000011616 biotin Substances 0.000 claims 1
- 239000000872 buffer Substances 0.000 claims 1
- 238000004737 colorimetric analysis Methods 0.000 claims 1
- 239000007822 coupling agent Substances 0.000 claims 1
- 238000003745 diagnosis Methods 0.000 claims 1
- 230000029087 digestion Effects 0.000 claims 1
- 238000010494 dissociation reaction Methods 0.000 claims 1
- 230000005593 dissociations Effects 0.000 claims 1
- 239000012634 fragment Substances 0.000 claims 1
- 239000000463 material Substances 0.000 claims 1
- 239000002751 oligonucleotide probe Substances 0.000 claims 1
- 125000002467 phosphate group Chemical group [H]OP(=O)(O[H])O[*] 0.000 claims 1
- 238000011002 quantification Methods 0.000 claims 1
- 230000008685 targeting Effects 0.000 claims 1
- 238000005406 washing Methods 0.000 claims 1
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US10/791,209 US20050191636A1 (en) | 2004-03-01 | 2004-03-01 | Detection of STRP, such as fragile X syndrome |
| PCT/US2005/007049 WO2005085476A1 (en) | 2004-03-01 | 2005-02-28 | Detection of strp, such as fragile x syndrome |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2007525998A JP2007525998A (ja) | 2007-09-13 |
| JP2007525998A5 true JP2007525998A5 (enExample) | 2008-04-03 |
Family
ID=34887577
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2007502004A Withdrawn JP2007525998A (ja) | 2004-03-01 | 2005-02-28 | 脆弱ｘ症候群などのｓｔｒｐの検出 |
Country Status (6)
| Country | Link |
|---|---|
| US (1) | US20050191636A1 (enExample) |
| EP (1) | EP1723261A1 (enExample) |
| JP (1) | JP2007525998A (enExample) |
| KR (1) | KR20070011354A (enExample) |
| CN (1) | CN1926247A (enExample) |
| WO (1) | WO2005085476A1 (enExample) |
Families Citing this family (35)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6913697B2 (en) | 2001-02-14 | 2005-07-05 | Science & Technology Corporation @ Unm | Nanostructured separation and analysis devices for biological membranes |
| WO2004029221A2 (en) | 2002-09-27 | 2004-04-08 | The General Hospital Corporation | Microfluidic device for cell separation and uses thereof |
| US7468249B2 (en) * | 2004-05-05 | 2008-12-23 | Biocept, Inc. | Detection of chromosomal disorders |
| US20070196820A1 (en) | 2005-04-05 | 2007-08-23 | Ravi Kapur | Devices and methods for enrichment and alteration of cells and other particles |
| US8921102B2 (en) | 2005-07-29 | 2014-12-30 | Gpb Scientific, Llc | Devices and methods for enrichment and alteration of circulating tumor cells and other particles |
| EP1857548A1 (en) | 2006-05-19 | 2007-11-21 | Academisch Ziekenhuis Leiden | Means and method for inducing exon-skipping |
| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
| EP2589668A1 (en) | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| WO2007147074A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
| PT2049664E (pt) | 2006-08-11 | 2012-01-03 | Prosensa Technologies Bv | Oligonucleotídeos de cadeia simples complementares dos elementos repetitivos para tratar perturbações genéticas associadas à instabilidade das repetições do adn |
| WO2009008725A2 (en) | 2007-07-12 | 2009-01-15 | Prosensa Technologies B.V. | Molecules for targeting compounds to various selected organs, tissues or tumor cells |
| DK2167136T3 (en) | 2007-07-12 | 2016-07-25 | Biomarin Tech Bv | Molecules for targeting compounds at different selected organs or tissues |
| WO2009045467A1 (en) * | 2007-10-02 | 2009-04-09 | Fred Hutchinson Cancer Research Center | Methods and compositions for identifying increased risk of developing fragile x-associated disorders |
| PL2203173T3 (pl) | 2007-10-26 | 2016-06-30 | Academisch Ziekenhuis Leiden | Środki i sposoby przeciwdziałania zaburzeniom mięśni |
| USRE48468E1 (en) | 2007-10-26 | 2021-03-16 | Biomarin Technologies B.V. | Means and methods for counteracting muscle disorders |
| US8008019B2 (en) * | 2007-11-28 | 2011-08-30 | Luminex Molecular Diagnostics | Use of dual-tags for the evaluation of genomic variable repeat regions |
| NZ587178A (en) | 2008-02-08 | 2011-11-25 | Prosensa Holding Bv | Methods and means for treating dna repeat instability associated genetic disorders |
| EP2119783A1 (en) | 2008-05-14 | 2009-11-18 | Prosensa Technologies B.V. | Method for efficient exon (44) skipping in Duchenne Muscular Dystrophy and associated means |
| US20090298709A1 (en) * | 2008-05-28 | 2009-12-03 | Affymetrix, Inc. | Assays for determining telomere length and repeated sequence copy number |
| ES2620294T3 (es) | 2008-09-20 | 2017-06-28 | The Board Of Trustees Of The Leland Stanford Junior University | Diagnóstico no invasivo de la aneuploidia fetal por secuenciación |
| WO2010123369A1 (en) | 2009-04-24 | 2010-10-28 | Prosensa Technologies B.V. | Oligonucleotide comprising an inosine for treating dmd |
| US8592158B2 (en) * | 2009-07-10 | 2013-11-26 | Perkinelmer Health Sciences, Inc. | Detecting multinucleotide repeats |
| EP4296370B1 (en) | 2010-02-05 | 2025-11-05 | Quest Diagnostics Investments Incorporated | Method to detect repeat sequence motifs in nucleic acid |
| GB201116131D0 (en) * | 2011-09-19 | 2011-11-02 | Epistem Ltd | Probe |
| US20130183666A1 (en) * | 2012-01-18 | 2013-07-18 | Marc N. Feiglin | Partial genotyping by differential hybridization |
| JP2015509922A (ja) | 2012-01-27 | 2015-04-02 | プロセンサ テクノロジーズ ビー．ブイ．Ｐｒｏｓｅｎｓａ Ｔｅｃｈｎｏｌｏｇｉｅｓ Ｂ．Ｖ． | デュシェンヌ型及びベッカー型筋ジストロフィーの治療のための改善された特徴を有するｒｎａ調節オリゴヌクレオチド |
| CN102703595B (zh) * | 2012-06-13 | 2014-02-12 | 东南大学 | 一种碱基选择性可控延伸的str序列高通量检测方法及其检测试剂 |
| CN102952794B (zh) * | 2012-09-05 | 2015-02-25 | 张家港蓝苏生物工程有限公司 | 靶向基因dna分子探针的制备方法 |
| CN104531851A (zh) * | 2014-12-10 | 2015-04-22 | 东南大学 | 一种基于磁珠与多糖水解分离发光标记物的核酸检测方法 |
| CN104498600A (zh) * | 2014-12-10 | 2015-04-08 | 东南大学 | 一种基于磁珠与核酸水解分离发光标记物的核酸检测方法 |
| CN108300776A (zh) * | 2017-01-13 | 2018-07-20 | 金赟懿 | 脆性x综合征快速筛查试剂盒 |
| US10459666B2 (en) | 2017-03-03 | 2019-10-29 | Commvault Systems, Inc. | Using storage managers in respective data storage management systems for license distribution, compliance, and updates |
| EA202091646A1 (ru) * | 2018-01-05 | 2020-11-17 | Квошент Сюисс Са | Платформа на основе самособирающегося диагностического массива |
| GB201803019D0 (en) * | 2018-02-26 | 2018-04-11 | Univ Newcastle | Methods for detecting target polynucleotides |
Family Cites Families (13)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| DK0724646T3 (da) * | 1991-01-04 | 2001-09-03 | Univ Washington | DNA sekvenser knyttet til isoleret fragilt X syndrom |
| US6180337B1 (en) * | 1991-05-24 | 2001-01-30 | Baylor College Of Medicine | Diagnosis of the fragile X syndrome |
| US6200747B1 (en) * | 1992-01-28 | 2001-03-13 | North Shore University Hospital Research Corp. | Method and kits for detection of fragile X specific, GC-rich DNA sequences |
| WO1994003638A1 (en) * | 1992-07-30 | 1994-02-17 | Applied Biosystems, Inc. | Method of detecting aneuploidy by amplified short tandem repeats |
| JP2807612B2 (ja) * | 1993-03-12 | 1998-10-08 | ノボ ノルディスク アクティーゼルスカブ | 新規キシラナーゼ、その製造法、該キシラナーゼによるパルプ処理方法及びキシロオリゴ糖の製造法 |
| US6120992A (en) * | 1993-11-04 | 2000-09-19 | Valigene Corporation | Use of immobilized mismatch binding protein for detection of mutations and polymorphisms, and allele identification in a diseased human |
| US5753439A (en) * | 1995-05-19 | 1998-05-19 | Trustees Of Boston University | Nucleic acid detection methods |
| US5888740A (en) * | 1997-09-19 | 1999-03-30 | Genaco Biomedical Products, Inc. | Detection of aneuploidy and gene deletion by PCR-based gene- dose co-amplification of chromosome specific sequences with synthetic sequences with synthetic internal controls |
| US6143504A (en) * | 1998-10-27 | 2000-11-07 | Arch Development Corporation | Methods and compositions for the diagnosis of fragile X syndrome |
| US6268147B1 (en) * | 1998-11-02 | 2001-07-31 | Kenneth Loren Beattie | Nucleic acid analysis using sequence-targeted tandem hybridization |
| US6225061B1 (en) * | 1999-03-10 | 2001-05-01 | Sequenom, Inc. | Systems and methods for performing reactions in an unsealed environment |
| US6638719B1 (en) * | 1999-07-14 | 2003-10-28 | Affymetrix, Inc. | Genotyping biallelic markers |
| US20040265883A1 (en) * | 2003-06-27 | 2004-12-30 | Biocept, Inc. | mRNA expression analysis |
-
2004
- 2004-03-01 US US10/791,209 patent/US20050191636A1/en not_active Abandoned
-
2005
- 2005-02-28 JP JP2007502004A patent/JP2007525998A/ja not_active Withdrawn
- 2005-02-28 WO PCT/US2005/007049 patent/WO2005085476A1/en not_active Ceased
- 2005-02-28 KR KR1020067020635A patent/KR20070011354A/ko not_active Withdrawn
- 2005-02-28 EP EP05724566A patent/EP1723261A1/en not_active Withdrawn
- 2005-02-28 CN CNA2005800064661A patent/CN1926247A/zh active Pending
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