CY1118864T1 - Μεθοδοι και συνθεσεις για μη επεμβατικη προγεννητικη διαγνωση εμβρυϊκων ανευπλοειδιων - Google Patents

Μεθοδοι και συνθεσεις για μη επεμβατικη προγεννητικη διαγνωση εμβρυϊκων ανευπλοειδιων

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Publication number
CY1118864T1
CY1118864T1 CY20171100452T CY171100452T CY1118864T1 CY 1118864 T1 CY1118864 T1 CY 1118864T1 CY 20171100452 T CY20171100452 T CY 20171100452T CY 171100452 T CY171100452 T CY 171100452T CY 1118864 T1 CY1118864 T1 CY 1118864T1
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CY
Cyprus
Prior art keywords
dna
hypomethylated
fetal
methods
compositions
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CY20171100452T
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English (en)
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Philippos C Patsalis
Elisavet A Papageorgiou
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Nipd Genetics Ltd
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Publication date
Application filed by Nipd Genetics Ltd filed Critical Nipd Genetics Ltd
Publication of CY1118864T1 publication Critical patent/CY1118864T1/el

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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

Η εφεύρεση παρέχει μεθόδους και συνθέσεις για μη επεμβατική προγεννητική διάγνωση εμβρυϊκών ανευπλοειδιών. Έχει αναγνωριστεί μια μεγάλη ομάδα διαφορετικά μεθυλιωμένων περιοχών (DMRs). Ορισμένες από αυτές τις DMRs είναι υπομεθυλιωμένες στο DNA αίματος ενήλικων γυναικών και υπερμεθυλιωμένες στο εμβρυϊκό DNA, ενώ άλλες είναι υπερμεθυλιωμένες στο DNA αίματος ενήλικων γυναικών και υπομεθυλιωμένες στο εμβρυϊκό DNA. Επιπλέον, έχει δειχθεί ότι οι DMRs που είναι υπομεθυλιωμένες στο DNA αίματος ενήλικων γυναικών και υπερμεθυλιωμένες στο εμβρυϊκό DNA προβλέπουν με ακρίβεια μια εμβρυϊκή ανευπλοειδία στο εμβρυϊκό DNA που υπάρχει σε ένα δείγμα μητρικού αίματος κατά τη διάρκεια της κύησης. Στις μεθόδους της εφεύρεσης, το υπερμεθυλιωμένο DNA διαχωρίζεται από άποψη φυσιολογίας από το υπομεθυλιωμένο DNA, κατά προτίμηση με ανοσοκατακρήμνιση του μεθυλιωμένου DNA.
CY20171100452T 2010-01-26 2017-04-21 Μεθοδοι και συνθεσεις για μη επεμβατικη προγεννητικη διαγνωση εμβρυϊκων ανευπλοειδιων CY1118864T1 (el)

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 (1)

Publication Number Publication Date
CY1118864T1 true CY1118864T1 (el) 2018-01-10

Family

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Family Applications (1)

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CY20171100452T CY1118864T1 (el) 2010-01-26 2017-04-21 Μεθοδοι και συνθεσεις για μη επεμβατικη προγεννητικη διαγνωση εμβρυϊκων ανευπλοειδιων

Country Status (17)

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

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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
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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
US9926593B2 (en) 2009-12-22 2018-03-27 Sequenom, Inc. Processes and kits for identifying aneuploidy
ES2930180T3 (es) 2012-03-02 2022-12-07 Sequenom Inc Métodos para enriquecer ácido nucleico canceroso a partir de una muestra biológica
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
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WO2014043763A1 (en) * 2012-09-20 2014-03-27 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
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
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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
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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
SG11201810544WA (en) 2016-05-30 2018-12-28 Univ Hong Kong Chinese 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
KR20200060969A (ko) 2018-11-23 2020-06-02 (주)셀트리온 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법
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Also Published As

Publication number Publication date
BR112012018458A2 (pt) 2018-07-10
WO2011092592A2 (en) 2011-08-04
JP2013517789A (ja) 2013-05-20
PL2529032T3 (pl) 2017-07-31
KR20120107512A (ko) 2012-10-02
EA023565B1 (ru) 2016-06-30
WO2011092592A3 (en) 2011-11-03
ES2623156T3 (es) 2017-07-10
AU2011210255A1 (en) 2012-07-26
EP2529032A2 (en) 2012-12-05
PT2529032T (pt) 2017-05-04
EP2529032B1 (en) 2017-01-25
CA2786174A1 (en) 2011-08-04
EA201290716A1 (ru) 2013-06-28
CN102892899A (zh) 2013-01-23
US9249462B2 (en) 2016-02-02
AU2011210255B2 (en) 2014-11-20
SG182322A1 (en) 2012-08-30
DK2529032T3 (en) 2017-05-01
NZ601079A (en) 2014-08-29
US20120282613A1 (en) 2012-11-08

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