WO2002004672A3 - Diagnostic method for the identification of foetal dna in a maternal sample - Google Patents

Diagnostic method for the identification of foetal dna in a maternal sample Download PDF

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Publication number
WO2002004672A3
WO2002004672A3 PCT/GB2001/003092 GB0103092W WO0204672A3 WO 2002004672 A3 WO2002004672 A3 WO 2002004672A3 GB 0103092 W GB0103092 W GB 0103092W WO 0204672 A3 WO0204672 A3 WO 0204672A3
Authority
WO
WIPO (PCT)
Prior art keywords
dna
foetal
identification
sample
diagnostic method
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.)
Ceased
Application number
PCT/GB2001/003092
Other languages
French (fr)
Other versions
WO2002004672A2 (en
Inventor
Maj Anita Hulten
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Simeg Ltd
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Simeg Ltd
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Simeg Ltd filed Critical Simeg Ltd
Priority to US10/332,533 priority Critical patent/US7083924B2/en
Priority to DE60126090T priority patent/DE60126090D1/en
Priority to HK04102885.0A priority patent/HK1060156B/en
Priority to EP01947676A priority patent/EP1301630B1/en
Priority to JP2002509525A priority patent/JP2004502466A/en
Priority to AU2001269323A priority patent/AU2001269323B2/en
Priority to CA002414986A priority patent/CA2414986A1/en
Priority to AU6932301A priority patent/AU6932301A/en
Publication of WO2002004672A2 publication Critical patent/WO2002004672A2/en
Publication of WO2002004672A3 publication Critical patent/WO2002004672A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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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
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • 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
    • C12Q2600/156—Polymorphic or mutational markers

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Cell Biology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Magnetic Resonance Imaging Apparatus (AREA)
  • Electrotherapy Devices (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

A method for the identification of foetal DNA in a maternal DNA-containing sample such as a blood or vaginal sample, said method comprising (a) isolating DNA from said sample, (b) subjecting said DNA to exonucleolytic digestion by an enzyme so as to remove end regions of each DNA molecule, and (c) detecting the presence of a DNA sequence remaining in foetal DNA but absent form maternal DNA as a result of said digestion process. Once identified, the foetal DNA can be subject to diagnosis for example to detect chromosomal /DNA abnormalities, including in particular aneuploides such as foetal trisomy 21.
PCT/GB2001/003092 2000-07-10 2001-07-09 Diagnostic method for the identification of foetal dna in a maternal sample Ceased WO2002004672A2 (en)

Priority Applications (8)

Application Number Priority Date Filing Date Title
US10/332,533 US7083924B2 (en) 2000-07-10 2001-07-09 Diagnostic method for the identification of foetal DNA in a material sample
DE60126090T DE60126090D1 (en) 2000-07-10 2001-07-09 DIAGNOSTIC METHOD FOR THE IDENTIFICATION OF FETAL DNA IN A MATERNAL SAMPLE
HK04102885.0A HK1060156B (en) 2000-07-10 2001-07-09 Diagnostic method for the identification of foetal dna in a maternal sample
EP01947676A EP1301630B1 (en) 2000-07-10 2001-07-09 Diagnostic method for the identification of foetal dna in a maternal sample
JP2002509525A JP2004502466A (en) 2000-07-10 2001-07-09 Diagnosis method
AU2001269323A AU2001269323B2 (en) 2000-07-10 2001-07-09 Diagnostic method for the indentification of foetal DNA in a maternal sample
CA002414986A CA2414986A1 (en) 2000-07-10 2001-07-09 Diagnostic method for the identification of foetal dna in a maternal sample
AU6932301A AU6932301A (en) 2000-07-10 2001-07-09 Diagnostic method

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GB0016742.9 2000-07-10
GBGB0016742.9A GB0016742D0 (en) 2000-07-10 2000-07-10 Diagnostic method

Publications (2)

Publication Number Publication Date
WO2002004672A2 WO2002004672A2 (en) 2002-01-17
WO2002004672A3 true WO2002004672A3 (en) 2002-09-06

Family

ID=9895241

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2001/003092 Ceased WO2002004672A2 (en) 2000-07-10 2001-07-09 Diagnostic method for the identification of foetal dna in a maternal sample

Country Status (9)

Country Link
EP (1) EP1301630B1 (en)
JP (1) JP2004502466A (en)
CN (1) CN100558908C (en)
AT (1) ATE351923T1 (en)
AU (2) AU2001269323B2 (en)
CA (1) CA2414986A1 (en)
DE (1) DE60126090D1 (en)
GB (1) GB0016742D0 (en)
WO (1) WO2002004672A2 (en)

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7332277B2 (en) 2002-03-01 2008-02-19 Ravgen, Inc. Methods for detection of genetic disorders
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US9163282B2 (en) 2010-05-18 2015-10-20 Natera, Inc. Methods for non-invasive prenatal ploidy calling

Families Citing this family (60)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IL163600A0 (en) 2002-03-01 2005-12-18 Ravgen Inc Methods for detection of genetic disorders
GB0214842D0 (en) * 2002-06-27 2002-08-07 Simeg Ltd Diagnostic method
JP2006521086A (en) * 2003-02-28 2006-09-21 ラブジェン， インコーポレイテッド Methods for detecting genetic diseases
EP1599608A4 (en) * 2003-03-05 2007-07-18 Genetic Technologies Ltd IDENTIFICATION OF FETAL DNA AND FETAL CELL MARKERS IN PLASMA OR MATERNAL SERUM
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US7645576B2 (en) * 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
DK2302070T3 (en) 2005-06-23 2012-11-26 Keygene Nv Strategies for the identification and detection of high-throughput polymorphisms
US11111544B2 (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
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10316364B2 (en) 2005-09-29 2019-06-11 Keygene N.V. Method for identifying the source of an amplicon
WO2007037678A2 (en) 2005-09-29 2007-04-05 Keygene N.V. High throughput screening of mutagenized populations
ES2634665T3 (en) * 2005-11-26 2017-09-28 Natera, Inc. Method and system to detect chromosomal abnormalities
CA2645045A1 (en) * 2006-03-06 2007-09-13 The Trustees Of Columbia University In The City Of New York Specific amplification of fetal dna sequences from a mixed, fetal-maternal source
EP4170042A1 (en) * 2006-06-14 2023-04-26 Verinata Health, Inc. 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
PL2557520T3 (en) * 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Determining a nucleic acid sequence imbalance
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
US20110183338A1 (en) * 2008-01-30 2011-07-28 Novartis Vaccines And Diagnostics, Inc. Two stage enrichment of cell-free fetal dna in maternal plasma
EP2321642B1 (en) 2008-08-04 2017-01-11 Natera, Inc. Methods for allele calling and ploidy calling
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
CA2780016C (en) 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US12545960B2 (en) 2010-05-18 2026-02-10 Natera, Inc. Methods for simultaneous amplification of target loci
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
WO2011146632A1 (en) 2010-05-18 2011-11-24 Gene Security Network Inc. Methods for non-invasive prenatal ploidy calling
US11332785B2 (en) 2010-05-18 2022-05-17 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
CN103608466B (en) 2010-12-22 2020-09-18 纳特拉公司 Non-invasive prenatal paternity testing method
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
CA2945962C (en) 2014-04-21 2023-08-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
US20180173846A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
EP4358097A1 (en) * 2014-07-25 2024-04-24 University of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
RU2760913C2 (en) 2016-04-15 2021-12-01 Натера, Инк. Methods for identifying lung cancer
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
WO2018156418A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
US12084720B2 (en) 2017-12-14 2024-09-10 Natera, Inc. Assessing graft suitability for transplantation
US20210062183A1 (en) * 2018-01-08 2021-03-04 Cradle Genomics, Inc. Methods and kits for nucleic acid isolation
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
US12024738B2 (en) 2018-04-14 2024-07-02 Natera, Inc. Methods for cancer detection and monitoring
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
US12305235B2 (en) 2019-06-06 2025-05-20 Natera, Inc. Methods for detecting immune cell DNA and monitoring immune system

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0430402A2 (en) * 1989-12-01 1991-06-05 The Regents Of The University Of California Methods and compositions for chromosome-specific staining
WO1994002646A1 (en) * 1992-07-17 1994-02-03 Aprogenex Inc. Enriching and identyfying fetal cells in maternal blood for in situ hybridization
WO1998039474A1 (en) * 1997-03-04 1998-09-11 Isis Innovation Limited Non-invasive prenatal diagnosis

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB0009784D0 (en) * 2000-04-20 2000-06-07 Simeg Limited Methods for clinical diagnosis

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0430402A2 (en) * 1989-12-01 1991-06-05 The Regents Of The University Of California Methods and compositions for chromosome-specific staining
WO1994002646A1 (en) * 1992-07-17 1994-02-03 Aprogenex Inc. Enriching and identyfying fetal cells in maternal blood for in situ hybridization
WO1998039474A1 (en) * 1997-03-04 1998-09-11 Isis Innovation Limited Non-invasive prenatal diagnosis

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
IWAMA HIROSHI ET AL: "Telomeric length and telomerase activity vary with age in peripheral blood cells obtained from normal individuals.", HUMAN GENETICS, vol. 102, no. 4, April 1998 (1998-04-01), pages 397 - 402, XP002200863, ISSN: 0340-6717 *
YOUNGREN KJELL ET AL: "Synchrony in telomere length of the human fetus.", HUMAN GENETICS, vol. 102, no. 6, June 1998 (1998-06-01), pages 640 - 643, XP002200862, ISSN: 0340-6717 *

Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7332277B2 (en) 2002-03-01 2008-02-19 Ravgen, Inc. Methods for detection of genetic disorders
US7598060B2 (en) 2002-03-01 2009-10-06 Ravgen, Inc. Rapid analysis of variations in a genome
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US9163282B2 (en) 2010-05-18 2015-10-20 Natera, Inc. Methods for non-invasive prenatal ploidy calling

Also Published As

Publication number Publication date
GB0016742D0 (en) 2000-08-30
JP2004502466A (en) 2004-01-29
DE60126090D1 (en) 2007-03-08
CN1452665A (en) 2003-10-29
CA2414986A1 (en) 2002-01-17
HK1060156A1 (en) 2004-07-30
WO2002004672A2 (en) 2002-01-17
AU6932301A (en) 2002-01-21
ATE351923T1 (en) 2007-02-15
EP1301630A2 (en) 2003-04-16
CN100558908C (en) 2009-11-11
AU2001269323B2 (en) 2006-08-03
EP1301630B1 (en) 2007-01-17

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