EA201290716A1 - Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода - Google Patents

Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода

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EA201290716A1
EA201290716A1 EA201290716A EA201290716A EA201290716A1 EA 201290716 A1 EA201290716 A1 EA 201290716A1 EA 201290716 A EA201290716 A EA 201290716A EA 201290716 A EA201290716 A EA 201290716A EA 201290716 A1 EA201290716 A1 EA 201290716A1
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Eurasian Patent Office
Prior art keywords
dna
fetal
hypomethylated
hypermethylated
methods
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EA201290716A
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English (en)
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EA023565B1 (ru
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Филиппос К. Пацалис
Элизавет А. Папагеоргиу
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ЭнАйПиДи ДЖЕНЕТИКС ЛТД.
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Publication of EA201290716A1 publication Critical patent/EA201290716A1/ru
Publication of EA023565B1 publication Critical patent/EA023565B1/ru

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    • 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

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  • 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)

Abstract

Изобретение описывает способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода. Была идентифицирована большая панель дифференциально метилированных участков (ДМУ). Определенные такие ДМУ являются гипометилированными в ДНК крови взрослой женщины и гиперметилированными в ДНК плода, в то время как другие гиперметилированы в ДНК крови взрослой женщины и гипометилированы в ДНК плода. Более того, было доказано, что ДМУ, являющиеся гипометилированными в ДНК крови взрослой женщины и гиперметилированными в ДНК плода, точно предсказывают анеуплоидию плода в ДНК плода, присутствующей в образце крови матери во время беременности. В способах по изобретению гиперметилированную ДНК физически отделяют от гипометилированной ДНК, преимущественно путем иммунопреципитации метилированной ДНК.
EA201290716A 2010-01-26 2011-01-26 Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода EA023565B1 (ru)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US29833910P 2010-01-26 2010-01-26
US40542110P 2010-10-21 2010-10-21
PCT/IB2011/000217 WO2011092592A2 (en) 2010-01-26 2011-01-26 Methods and compositions for noninvasive prenatal diagnosis of fetal aneuploidies

Publications (2)

Publication Number Publication Date
EA201290716A1 true EA201290716A1 (ru) 2013-06-28
EA023565B1 EA023565B1 (ru) 2016-06-30

Family

ID=44278821

Family Applications (1)

Application Number Title Priority Date Filing Date
EA201290716A EA023565B1 (ru) 2010-01-26 2011-01-26 Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода

Country Status (17)

Country Link
US (1) US9249462B2 (ru)
EP (1) EP2529032B1 (ru)
JP (1) JP2013517789A (ru)
KR (1) KR20120107512A (ru)
CN (1) CN102892899A (ru)
AU (1) AU2011210255B2 (ru)
BR (1) BR112012018458A2 (ru)
CA (1) CA2786174A1 (ru)
CY (1) CY1118864T1 (ru)
DK (1) DK2529032T3 (ru)
EA (1) EA023565B1 (ru)
ES (1) ES2623156T3 (ru)
NZ (1) NZ601079A (ru)
PL (1) PL2529032T3 (ru)
PT (1) PT2529032T (ru)
SG (1) SG182322A1 (ru)
WO (1) WO2011092592A2 (ru)

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TWI335354B (en) 2006-09-27 2011-01-01 Univ Hong Kong Chinese Methods for the detection of the degree of the methylation of a target dna and kits
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
ES2577017T3 (es) 2009-12-22 2016-07-12 Sequenom, Inc. Procedimientos y kits para identificar la aneuploidia
EP4155401A1 (en) 2012-03-02 2023-03-29 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
CA2878979C (en) 2012-07-13 2021-09-14 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
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
NZ717423A (en) * 2012-09-20 2017-08-25 Univ Hong Kong Chinese Non-invasive determination of methylome of fetus or tumor from plasma
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
EP2971100A1 (en) 2013-03-13 2016-01-20 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
US11365447B2 (en) 2014-03-13 2022-06-21 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
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EP2942400A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Multiplex detection of DNA that originates from a specific cell-type
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
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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
CA2986200A1 (en) 2015-05-22 2016-12-01 Nipd Genetics Public Company Limited 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
CN108475301A (zh) * 2015-12-04 2018-08-31 绿十字基因组公司 用于确定包含核酸的混合物的样品中的拷贝数变异的方法
KR101817180B1 (ko) * 2016-01-20 2018-01-10 이원다이애그노믹스(주) 염색체 이상 판단 방법
CN109196120B (zh) 2016-05-30 2022-08-02 香港中文大学 使用血液中的无细胞dna检测血液病症
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
KR20200060969A (ko) 2018-11-23 2020-06-02 (주)셀트리온 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법
WO2021198726A1 (en) * 2020-03-30 2021-10-07 Vilnius University Methods and compositions for noninvasive prenatal diagnosis through targeted covalent labeling of genomic sites
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Also Published As

Publication number Publication date
JP2013517789A (ja) 2013-05-20
US9249462B2 (en) 2016-02-02
ES2623156T3 (es) 2017-07-10
EP2529032A2 (en) 2012-12-05
PL2529032T3 (pl) 2017-07-31
DK2529032T3 (en) 2017-05-01
WO2011092592A3 (en) 2011-11-03
BR112012018458A2 (pt) 2018-07-10
WO2011092592A2 (en) 2011-08-04
CY1118864T1 (el) 2018-01-10
CN102892899A (zh) 2013-01-23
CA2786174A1 (en) 2011-08-04
AU2011210255B2 (en) 2014-11-20
SG182322A1 (en) 2012-08-30
PT2529032T (pt) 2017-05-04
EA023565B1 (ru) 2016-06-30
NZ601079A (en) 2014-08-29
AU2011210255A1 (en) 2012-07-26
KR20120107512A (ko) 2012-10-02
EP2529032B1 (en) 2017-01-25
US20120282613A1 (en) 2012-11-08

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