JP2007535928A5 - - Google Patents
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- JP2007535928A5 JP2007535928A5 JP2007511389A JP2007511389A JP2007535928A5 JP 2007535928 A5 JP2007535928 A5 JP 2007535928A5 JP 2007511389 A JP2007511389 A JP 2007511389A JP 2007511389 A JP2007511389 A JP 2007511389A JP 2007535928 A5 JP2007535928 A5 JP 2007535928A5
- Authority
- JP
- Japan
- Prior art keywords
- dna
- ratio
- microarray
- primer
- pcr
- 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.)
- Granted
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- 108020004414 DNA Proteins 0.000 claims 18
- 210000000349 chromosome Anatomy 0.000 claims 12
- 239000013615 primer Substances 0.000 claims 11
- 208000031404 Chromosome Aberrations Diseases 0.000 claims 10
- 238000000034 method Methods 0.000 claims 10
- 238000002493 microarray Methods 0.000 claims 9
- 238000003752 polymerase chain reaction Methods 0.000 claims 9
- 239000000047 product Substances 0.000 claims 7
- 108091034117 Oligonucleotide Proteins 0.000 claims 6
- 230000000295 complement effect Effects 0.000 claims 6
- 238000003384 imaging method Methods 0.000 claims 6
- 206010008805 Chromosomal abnormalities Diseases 0.000 claims 5
- 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 4
- 239000002773 nucleotide Substances 0.000 claims 4
- 125000003729 nucleotide group Chemical group 0.000 claims 4
- 108090000623 proteins and genes Proteins 0.000 claims 4
- 101710181853 C-factor Proteins 0.000 claims 3
- 238000012408 PCR amplification Methods 0.000 claims 3
- 102000053602 DNA Human genes 0.000 claims 2
- 108020001019 DNA Primers Proteins 0.000 claims 2
- 239000003155 DNA primer Substances 0.000 claims 2
- 108090000790 Enzymes Proteins 0.000 claims 2
- 102000004190 Enzymes Human genes 0.000 claims 2
- 108020005187 Oligonucleotide Probes Proteins 0.000 claims 2
- 239000000872 buffer Substances 0.000 claims 2
- 239000002751 oligonucleotide probe Substances 0.000 claims 2
- 208000010543 22q11.2 deletion syndrome Diseases 0.000 claims 1
- 238000012935 Averaging Methods 0.000 claims 1
- 206010011385 Cri-du-chat syndrome Diseases 0.000 claims 1
- 238000007900 DNA-DNA hybridization Methods 0.000 claims 1
- 208000000398 DiGeorge Syndrome Diseases 0.000 claims 1
- 201000010374 Down Syndrome Diseases 0.000 claims 1
- 201000006360 Edwards syndrome Diseases 0.000 claims 1
- 108060002716 Exonuclease Proteins 0.000 claims 1
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 1
- 229910019142 PO4 Inorganic materials 0.000 claims 1
- 201000009928 Patau syndrome Diseases 0.000 claims 1
- 108091081021 Sense strand Proteins 0.000 claims 1
- 108020004682 Single-Stranded DNA Proteins 0.000 claims 1
- 206010044686 Trisomy 13 Diseases 0.000 claims 1
- 208000006284 Trisomy 13 Syndrome Diseases 0.000 claims 1
- 208000007159 Trisomy 18 Syndrome Diseases 0.000 claims 1
- 206010044688 Trisomy 21 Diseases 0.000 claims 1
- 208000036878 aneuploidy Diseases 0.000 claims 1
- 231100001075 aneuploidy Toxicity 0.000 claims 1
- 230000000692 anti-sense effect Effects 0.000 claims 1
- 238000003556 assay Methods 0.000 claims 1
- 239000013611 chromosomal DNA Substances 0.000 claims 1
- 238000001514 detection method Methods 0.000 claims 1
- 238000003745 diagnosis Methods 0.000 claims 1
- 102000013165 exonuclease Human genes 0.000 claims 1
- 238000010363 gene targeting Methods 0.000 claims 1
- 108020004445 glyceraldehyde-3-phosphate dehydrogenase Proteins 0.000 claims 1
- 102000006602 glyceraldehyde-3-phosphate dehydrogenase Human genes 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- 239000000203 mixture Substances 0.000 claims 1
- NBIIXXVUZAFLBC-UHFFFAOYSA-K phosphate Chemical compound [O-]P([O-])([O-])=O NBIIXXVUZAFLBC-UHFFFAOYSA-K 0.000 claims 1
- 239000010452 phosphate Substances 0.000 claims 1
- 239000012264 purified product Substances 0.000 claims 1
- 239000000523 sample Substances 0.000 claims 1
- 208000011580 syndromic disease Diseases 0.000 claims 1
- 230000008685 targeting Effects 0.000 claims 1
- 206010053884 trisomy 18 Diseases 0.000 claims 1
- 208000026485 trisomy X Diseases 0.000 claims 1
- 238000005406 washing Methods 0.000 claims 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US10/840,208 US7468249B2 (en) | 2004-05-05 | 2004-05-05 | Detection of chromosomal disorders |
| US10/840,208 | 2004-05-05 | ||
| PCT/US2005/013070 WO2005111237A1 (en) | 2004-05-05 | 2005-04-18 | Detection of chromosomal disorders |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2007535928A JP2007535928A (ja) | 2007-12-13 |
| JP2007535928A5 true JP2007535928A5 (enExample) | 2008-05-29 |
| JP5032304B2 JP5032304B2 (ja) | 2012-09-26 |
Family
ID=34967157
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2007511389A Expired - Fee Related JP5032304B2 (ja) | 2004-05-05 | 2005-04-18 | 染色体異常の検出 |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US7468249B2 (enExample) |
| EP (1) | EP1759011B1 (enExample) |
| JP (1) | JP5032304B2 (enExample) |
| KR (1) | KR101176091B1 (enExample) |
| CN (1) | CN1981052A (enExample) |
| AT (1) | ATE503024T1 (enExample) |
| DE (1) | DE602005027067D1 (enExample) |
| WO (1) | WO2005111237A1 (enExample) |
Families Citing this family (83)
| Publication number | Priority date | Publication date | Assignee | Title |
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| US20070196820A1 (en) | 2005-04-05 | 2007-08-23 | Ravi Kapur | Devices and methods for enrichment and alteration of cells and other particles |
| US20090317798A1 (en) | 2005-06-02 | 2009-12-24 | Heid Christian A | Analysis using microfluidic partitioning devices |
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US20070027636A1 (en) * | 2005-07-29 | 2007-02-01 | Matthew Rabinowitz | System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions |
| US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
| 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 |
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US8515679B2 (en) * | 2005-12-06 | 2013-08-20 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US20070178501A1 (en) * | 2005-12-06 | 2007-08-02 | Matthew Rabinowitz | System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9133506B2 (en) * | 2006-01-10 | 2015-09-15 | Applied Spectral Imaging Ltd. | Methods and systems for analyzing biological samples |
| EP2589668A1 (en) * | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
| WO2007147074A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| US20080124721A1 (en) * | 2006-06-14 | 2008-05-29 | Martin Fuchs | Analysis of rare cell-enriched samples |
| US20080090237A1 (en) * | 2006-10-13 | 2008-04-17 | Zohar Yakhini | Methods and compositions for comparing chromosomal copy number between genomic samples |
| KR100920134B1 (ko) | 2007-06-29 | 2009-10-08 | 차의과학대학교 산학협력단 | Ｙ 염색체 미세결실 검출용 마이크로어레이 및 이를이용한 검출방법 |
| CA2717320A1 (en) | 2008-03-11 | 2009-09-17 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
| EP2321642B1 (en) | 2008-08-04 | 2017-01-11 | Natera, Inc. | Methods for allele calling and ploidy calling |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| 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 |
| US20100151473A1 (en) * | 2008-12-10 | 2010-06-17 | Yeakley Joanne M | Methods and compositions for hybridizing nucleic acids |
| US20120215459A1 (en) * | 2009-09-04 | 2012-08-23 | Marianne Stef | High throughput detection of genomic copy number variations |
| EP2854056A3 (en) | 2009-09-30 | 2015-06-03 | Natera, Inc. | Methods for non-invasive pre-natal ploidy calling |
| US9926593B2 (en) | 2009-12-22 | 2018-03-27 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| US8774488B2 (en) | 2010-03-11 | 2014-07-08 | Cellscape Corporation | Method and device for identification of nucleated red blood cells from a maternal blood sample |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
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| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
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| AU2011255641A1 (en) | 2010-05-18 | 2012-12-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
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| JP6153874B2 (ja) | 2011-02-09 | 2017-06-28 | ナテラ， インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
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| CN102703578B (zh) * | 2011-07-06 | 2013-12-04 | 郭奇伟 | Y染色体微缺失多重实时荧光pcr检测试剂盒 |
| CN102559872B (zh) * | 2011-12-09 | 2014-01-15 | 上海交通大学 | 检测Angelman综合征的基因芯片及使用方法、试剂盒 |
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| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US9840732B2 (en) | 2012-05-21 | 2017-12-12 | Fluidigm Corporation | Single-particle analysis of particle populations |
| US20150154352A1 (en) * | 2012-06-21 | 2015-06-04 | Gigagen, Inc. | System and Methods for Genetic Analysis of Mixed Cell Populations |
| WO2014011928A1 (en) | 2012-07-13 | 2014-01-16 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| EP2971100A1 (en) | 2013-03-13 | 2016-01-20 | Sequenom, Inc. | Primers for dna methylation analysis |
| US10450601B2 (en) * | 2013-09-26 | 2019-10-22 | Toyo Kohan Co., Ltd. | Buffer composition for hybridization use, and hybridization method |
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| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
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| JP6659575B2 (ja) | 2014-04-21 | 2020-03-04 | ナテラ， インコーポレイテッド | 変異の検出および染色体分節の倍数性 |
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| CN111051511A (zh) * | 2017-08-04 | 2020-04-21 | 十亿至一公司 | 用于与生物靶相关的表征的靶相关分子 |
| US12084720B2 (en) | 2017-12-14 | 2024-09-10 | Natera, Inc. | Assessing graft suitability for transplantation |
| WO2019161244A1 (en) | 2018-02-15 | 2019-08-22 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| CN112236535A (zh) | 2018-04-14 | 2021-01-15 | 纳特拉公司 | 用于借助于循环肿瘤dna的个人化检测的癌症检测和监测的方法 |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
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| US5213961A (en) * | 1989-08-31 | 1993-05-25 | Brigham And Women's Hospital | Accurate quantitation of RNA and DNA by competetitive polymerase chain reaction |
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-
2004
- 2004-05-05 US US10/840,208 patent/US7468249B2/en not_active Expired - Fee Related
-
2005
- 2005-04-18 CN CNA2005800205301A patent/CN1981052A/zh active Pending
- 2005-04-18 EP EP05740284A patent/EP1759011B1/en not_active Expired - Lifetime
- 2005-04-18 KR KR1020067025434A patent/KR101176091B1/ko not_active Expired - Fee Related
- 2005-04-18 JP JP2007511389A patent/JP5032304B2/ja not_active Expired - Fee Related
- 2005-04-18 DE DE602005027067T patent/DE602005027067D1/de not_active Expired - Lifetime
- 2005-04-18 WO PCT/US2005/013070 patent/WO2005111237A1/en not_active Ceased
- 2005-04-18 AT AT05740284T patent/ATE503024T1/de active
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