PT2529032T - Métodos e composições para diagnóstico pré-natal não invasivo de aneuploidias fetais - Google Patents
Métodos e composições para diagnóstico pré-natal não invasivo de aneuploidias fetais Download PDFInfo
- Publication number
- PT2529032T PT2529032T PT117094656T PT11709465T PT2529032T PT 2529032 T PT2529032 T PT 2529032T PT 117094656 T PT117094656 T PT 117094656T PT 11709465 T PT11709465 T PT 11709465T PT 2529032 T PT2529032 T PT 2529032T
- Authority
- PT
- Portugal
- Prior art keywords
- seq
- dna
- sample
- methylation
- regions
- Prior art date
Links
- 238000000034 method Methods 0.000 title claims 12
- 239000000203 mixture Substances 0.000 title claims 8
- 230000001605 fetal effect Effects 0.000 title claims 2
- 238000003793 prenatal diagnosis Methods 0.000 title claims 2
- 208000036878 aneuploidy Diseases 0.000 title 1
- 231100001075 aneuploidy Toxicity 0.000 title 1
- 230000011987 methylation Effects 0.000 claims 12
- 238000007069 methylation reaction Methods 0.000 claims 12
- 239000000523 sample Substances 0.000 claims 10
- 201000010374 Down Syndrome Diseases 0.000 claims 7
- 206010044688 Trisomy 21 Diseases 0.000 claims 7
- 230000008774 maternal effect Effects 0.000 claims 7
- 239000003155 DNA primer Substances 0.000 claims 4
- 210000004369 blood Anatomy 0.000 claims 4
- 239000008280 blood Substances 0.000 claims 4
- 210000003754 fetus Anatomy 0.000 claims 4
- 239000013611 chromosomal DNA Substances 0.000 claims 3
- 230000001404 mediated effect Effects 0.000 claims 2
- 210000005259 peripheral blood Anatomy 0.000 claims 2
- 239000011886 peripheral blood Substances 0.000 claims 2
- 238000003752 polymerase chain reaction Methods 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
- 108020004711 Nucleic Acid Probes Proteins 0.000 claims 1
- 108091034117 Oligonucleotide Proteins 0.000 claims 1
- 238000004458 analytical method Methods 0.000 claims 1
- 239000012133 immunoprecipitate Substances 0.000 claims 1
- 238000001114 immunoprecipitation Methods 0.000 claims 1
- 239000002853 nucleic acid probe Substances 0.000 claims 1
- 238000003753 real-time PCR Methods 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
- 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
- C12Q1/6804—Nucleic acid analysis using immunogens
-
- 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- 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
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
-
- 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
- C12Q2600/154—Methylation markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Health & Medical Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Immunology (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Microbiology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Pathology (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US29833910P | 2010-01-26 | 2010-01-26 | |
| US40542110P | 2010-10-21 | 2010-10-21 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| PT2529032T true PT2529032T (pt) | 2017-05-04 |
Family
ID=44278821
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PT117094656T PT2529032T (pt) | 2010-01-26 | 2011-01-26 | Métodos e composições para diagnóstico pré-natal não invasivo de aneuploidias fetais |
Country Status (17)
| Country | Link |
|---|---|
| US (1) | US9249462B2 (enExample) |
| EP (1) | EP2529032B1 (enExample) |
| JP (1) | JP2013517789A (enExample) |
| KR (1) | KR20120107512A (enExample) |
| CN (1) | CN102892899A (enExample) |
| AU (1) | AU2011210255B2 (enExample) |
| BR (1) | BR112012018458A2 (enExample) |
| CA (1) | CA2786174A1 (enExample) |
| CY (1) | CY1118864T1 (enExample) |
| DK (1) | DK2529032T3 (enExample) |
| EA (1) | EA023565B1 (enExample) |
| ES (1) | ES2623156T3 (enExample) |
| NZ (1) | NZ601079A (enExample) |
| PL (1) | PL2529032T3 (enExample) |
| PT (1) | PT2529032T (enExample) |
| SG (1) | SG182322A1 (enExample) |
| WO (1) | WO2011092592A2 (enExample) |
Families Citing this family (36)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101153336B (zh) | 2006-09-27 | 2011-09-07 | 香港中文大学 | 检测dna甲基化程度的方法和试剂盒 |
| 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 |
| 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 |
| EP2516680B1 (en) | 2009-12-22 | 2016-04-06 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | 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 |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP2872648B1 (en) | 2012-07-13 | 2019-09-04 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US9732390B2 (en) | 2012-09-20 | 2017-08-15 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
| US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
| FI4056712T3 (fi) * | 2012-09-20 | 2024-08-29 | Univ Hong Kong Chinese | Kasvaimen metyloomin nonivasiivinen määrittäminen plasmasta |
| CN104838013A (zh) * | 2012-09-26 | 2015-08-12 | 新加坡科技研究局 | 用于唐氏综合症产前诊断的生物标志物 |
| EP3597774A1 (en) | 2013-03-13 | 2020-01-22 | Sequenom, Inc. | Primers for dna methylation analysis |
| KR20140118682A (ko) | 2013-03-29 | 2014-10-08 | (주)셀트리온 | 2 이상의 인플루엔자 ａ 바이러스 중화 결합 분자를 포함하는 조성물 |
| EP3117011B1 (en) | 2014-03-13 | 2020-05-06 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| RU2583830C2 (ru) * | 2014-04-21 | 2016-05-10 | Закрытое акционерное общество "Геноаналитика" | Способ неинвазивной пренатальной диагностики анеуплоидий плода |
| EP2942401A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Detection of DNA that originates from a specific cell-type |
| EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
| EP3521454A1 (en) | 2014-05-09 | 2019-08-07 | LifeCodexx AG | Detection of dna that originates from a specific cell-type and related methods |
| US20180187267A1 (en) * | 2017-01-05 | 2018-07-05 | Michael J. Powell | Method for conducting early detection of colon cancer and/or of colon cancer precursor cells and for monitoring colon cancer recurrence |
| US10174383B2 (en) * | 2014-08-13 | 2019-01-08 | Vanadis Diagnostics | Method of estimating the amount of a methylated locus in a sample |
| WO2016176846A1 (zh) * | 2015-05-06 | 2016-11-10 | 安诺优达基因科技(北京)有限公司 | 检测染色体非整倍性的试剂盒、装置和方法 |
| WO2016189388A1 (en) | 2015-05-22 | 2016-12-01 | Nipd Genetics Ltd | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
| DK3168309T3 (da) | 2015-11-10 | 2020-06-22 | Eurofins Lifecodexx Gmbh | Detektion af føtale kromosomale aneuploidier under anvendelse af dna-regioner med forskellig metylering mellem fosteret og det gravide hunkøn |
| SG11201804651XA (en) * | 2015-12-04 | 2018-07-30 | Green Cross Genome Corp | Method for determining copy-number variation in sample comprising mixture of nucleic acids |
| KR101817180B1 (ko) * | 2016-01-20 | 2018-01-10 | 이원다이애그노믹스(주) | 염색체 이상 판단 방법 |
| US10781490B2 (en) | 2016-05-30 | 2020-09-22 | The Chinese University Of Hong Kong | Detecting hematological disorders using cell-free DNA in blood |
| CN109112209B (zh) * | 2017-06-25 | 2022-06-24 | 国家卫生计生委科学技术研究所 | 用于无创产前检测胎儿非整倍体染色体的参考品 |
| US12027237B2 (en) | 2018-03-13 | 2024-07-02 | Grail, Llc | Anomalous fragment detection and classification |
| KR20200060969A (ko) | 2018-11-23 | 2020-06-02 | (주)셀트리온 | 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법 |
| US12234514B2 (en) | 2018-12-21 | 2025-02-25 | Grail, Inc. | Source of origin deconvolution based on methylation fragments in cell-free DNA samples |
| US20230151409A1 (en) * | 2020-03-30 | 2023-05-18 | Vilnius University | Methods and compositions for noninvasive prenatal diagnosis through targeted covalent labeling of genomic sites |
| KR102332540B1 (ko) * | 2020-07-02 | 2021-11-29 | 의료법인 성광의료재단 | 다운증후군 특이적인 후성학적 마커를 이용한 다운증후군 진단 방법 |
| US20250079015A1 (en) * | 2022-01-10 | 2025-03-06 | Washington State University | Dna methylation biomarkers for preterm birth |
| WO2024216205A1 (en) * | 2023-04-14 | 2024-10-17 | Adela, Inc. | Methods and systems for cell-free nucleic acid processing |
| WO2025179073A1 (en) * | 2024-02-21 | 2025-08-28 | Adela, Inc. | Methods and systems for tissue informed differentially methylated region analysis |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6582908B2 (en) * | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| JP5013869B2 (ja) * | 2003-09-22 | 2012-08-29 | トリソゲン バイオテクノロジー リミテッド パートナーシップ | 遺伝子座コピー数の変化を検出するのに有用な方法およびキット |
| US20050282213A1 (en) | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
| GB0413688D0 (en) | 2004-06-18 | 2004-07-21 | Novartis Forschungsstiftung | Analysis of methylated nucleic acid |
| AU2005308918B2 (en) | 2004-11-29 | 2012-09-27 | Sequenom, Inc. | Means and methods for detecting methylated DNA |
| WO2007044780A2 (en) | 2005-10-07 | 2007-04-19 | Emory University | Methods and systems for screening for and diagnosing dna methylation associated abnormalities and sex chromosome aneuploidies |
| US7901884B2 (en) * | 2006-05-03 | 2011-03-08 | The Chinese University Of Hong Kong | Markers for prenatal diagnosis and monitoring |
| EP3892736A1 (en) | 2007-07-23 | 2021-10-13 | The Chinese University of Hong Kong | Determining a nucleic acid sequence imbalance |
| JP5322471B2 (ja) | 2008-03-27 | 2013-10-23 | シスメックス株式会社 | メチル化ｄｎａの解析方法及びプライマーセット |
| 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 |
-
2011
- 2011-01-26 NZ NZ601079A patent/NZ601079A/en unknown
- 2011-01-26 AU AU2011210255A patent/AU2011210255B2/en active Active
- 2011-01-26 EP EP11709465.6A patent/EP2529032B1/en active Active
- 2011-01-26 CN CN2011800097571A patent/CN102892899A/zh active Pending
- 2011-01-26 PT PT117094656T patent/PT2529032T/pt unknown
- 2011-01-26 ES ES11709465.6T patent/ES2623156T3/es active Active
- 2011-01-26 KR KR1020127020832A patent/KR20120107512A/ko not_active Withdrawn
- 2011-01-26 EA EA201290716A patent/EA023565B1/ru not_active IP Right Cessation
- 2011-01-26 DK DK11709465.6T patent/DK2529032T3/en active
- 2011-01-26 PL PL11709465T patent/PL2529032T3/pl unknown
- 2011-01-26 CA CA2786174A patent/CA2786174A1/en not_active Abandoned
- 2011-01-26 JP JP2012550529A patent/JP2013517789A/ja active Pending
- 2011-01-26 SG SG2012049003A patent/SG182322A1/en unknown
- 2011-01-26 BR BR112012018458A patent/BR112012018458A2/pt not_active IP Right Cessation
- 2011-01-26 US US13/520,708 patent/US9249462B2/en active Active
- 2011-01-26 WO PCT/IB2011/000217 patent/WO2011092592A2/en not_active Ceased
-
2017
- 2017-04-21 CY CY20171100452T patent/CY1118864T1/el unknown
Also Published As
| Publication number | Publication date |
|---|---|
| KR20120107512A (ko) | 2012-10-02 |
| WO2011092592A3 (en) | 2011-11-03 |
| BR112012018458A2 (pt) | 2018-07-10 |
| CN102892899A (zh) | 2013-01-23 |
| PL2529032T3 (pl) | 2017-07-31 |
| US9249462B2 (en) | 2016-02-02 |
| CA2786174A1 (en) | 2011-08-04 |
| NZ601079A (en) | 2014-08-29 |
| US20120282613A1 (en) | 2012-11-08 |
| SG182322A1 (en) | 2012-08-30 |
| ES2623156T3 (es) | 2017-07-10 |
| JP2013517789A (ja) | 2013-05-20 |
| WO2011092592A2 (en) | 2011-08-04 |
| EA201290716A1 (ru) | 2013-06-28 |
| AU2011210255A1 (en) | 2012-07-26 |
| EP2529032B1 (en) | 2017-01-25 |
| AU2011210255B2 (en) | 2014-11-20 |
| EA023565B1 (ru) | 2016-06-30 |
| CY1118864T1 (el) | 2018-01-10 |
| EP2529032A2 (en) | 2012-12-05 |
| DK2529032T3 (en) | 2017-05-01 |
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