WO2004078994A3 - Methods for detection of genetic disorders - Google Patents

Methods for detection of genetic disorders

Info

Publication number
WO2004078994A3
WO2004078994A3 PCT/US2004/006337 US2004006337W WO2004078994A3 WO 2004078994 A3 WO2004078994 A3 WO 2004078994A3 US 2004006337 W US2004006337 W US 2004006337W WO 2004078994 A3 WO2004078994 A3 WO 2004078994A3
Authority
WO
Grant status
Application
Patent type
Prior art keywords
detection
genetic disorders
invention
methods
method
Prior art date
Application number
PCT/US2004/006337
Other languages
French (fr)
Other versions
WO2004078994A2 (en )
Inventor
Ravinder Dhallan
Original Assignee
Ravinder Dhallan
Ravgen Inc
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

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07HSUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/02Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with ribosyl as saccharide radical
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07HSUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/04Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing

Abstract

The invention provides a method useful for detection of genetic disorders. The method comprises determining the sequence of alleles of a locus of interest, and quantitating a ratio for the alleles at the locus of interest, wherein the ratio indicates the presence or absence of a chromosomal abnormality. The present invention also provides a non-invasive method for the detection of chromosomal abnormalities in a fétus. The invention is especially useful as a non-invasive method for determining the sequence of fetal DNA. The invention further provides methods of isolation of free DNA from a sample.
PCT/US2004/006337 2002-03-01 2004-03-01 Methods for detection of genetic disorders WO2004078994A3 (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
PCT/US2003/006198 WO2003074723A3 (en) 2002-03-01 2003-02-28 Methods for detection of genetic disorders
USPCT/US0306198 2003-02-28

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP20040716171 EP1601793A4 (en) 2003-02-28 2004-03-01 Methods for detection of genetic disorders
US11212812 US7727720B2 (en) 2002-05-08 2005-08-26 Methods for detection of genetic disorders
US11313993 US20070178478A1 (en) 2002-05-08 2005-12-20 Methods for detection of genetic disorders

Related Parent Applications (2)

Application Number Title Priority Date Filing Date
PCT/US2003/006198 Continuation-In-Part WO2003074723A3 (en) 2002-03-01 2003-02-28 Methods for detection of genetic disorders
US11212812 Continuation-In-Part US7727720B2 (en) 2002-03-01 2005-08-26 Methods for detection of genetic disorders

Related Child Applications (1)

Application Number Title Priority Date Filing Date
US11212812 Continuation US7727720B2 (en) 2002-03-01 2005-08-26 Methods for detection of genetic disorders

Publications (2)

Publication Number Publication Date
WO2004078994A2 true WO2004078994A2 (en) 2004-09-16
WO2004078994A3 true true WO2004078994A3 (en) 2005-10-13

Family

ID=32961098

Family Applications (2)

Application Number Title Priority Date Filing Date
PCT/US2003/027308 WO2004079011A1 (en) 2002-03-01 2003-08-29 Methods for detection of genetic disorders
PCT/US2004/006337 WO2004078994A3 (en) 2002-03-01 2004-03-01 Methods for detection of genetic disorders

Family Applications Before (1)

Application Number Title Priority Date Filing Date
PCT/US2003/027308 WO2004079011A1 (en) 2002-03-01 2003-08-29 Methods for detection of genetic disorders

Country Status (4)

Country Link
EP (2) EP1601785A4 (en)
JP (1) JP2006521086A (en)
CA (1) CA2517017A1 (en)
WO (2) WO2004079011A1 (en)

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7718370B2 (en) 2002-03-01 2010-05-18 Ravgen, Inc. Methods for detection of genetic disorders
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders

Families Citing this family (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2477611A1 (en) 2002-03-01 2003-09-12 Ravgen, Inc. Rapid analysis of variations in a genome
US20070178478A1 (en) * 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
EP1524321B2 (en) 2003-10-16 2014-07-23 Sequenom, Inc. Non-invasive detection of fetal genetic traits
JP5219516B2 (en) * 2005-03-18 2013-06-26 ザ チャイニーズ ユニバーシティー オブ ホンコンThe Chinese University Of Hongkong Chromosome aneuploidy detection methods
CA2647793C (en) * 2006-02-28 2016-07-05 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US8609338B2 (en) 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20100184044A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
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
JP5540105B2 (en) 2009-11-05 2014-07-02 ザ チャイニーズ ユニバーシティ オブ ホンコン Fetal genome analysis of the mother biological sample
CA2785020A1 (en) 2009-12-22 2011-07-21 Sequenom, Inc. Processes and kits for identifying aneuploidy
CN101962684B (en) * 2010-11-04 2012-03-28 徐州师范大学 Single nucleotide polymorphism for cattle PCSK1 gene and detection method thereof
WO2013131021A1 (en) 2012-03-02 2013-09-06 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
US20140093873A1 (en) * 2012-07-13 2014-04-03 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
CN104619858B (en) * 2012-07-31 2017-06-06 深圳华大基因股份有限公司 Fetal health status of non-invasive detection
RU2557976C2 (en) * 2013-05-07 2015-07-27 Федеральное государственное бюджетное учреждение науки институт биоорганической химии им. академиков М.М. Шемякина и Ю.А. Овчинникова Российской академии наук (ИБХ РАН) Method for determining lung cancer cell sensitivity to cisplatin applying marker gene expression pattern and set for implementing it

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US5501963A (en) * 1992-09-11 1996-03-26 Hoffmann-La Roche Inc. Amplification and detection of nucleic acids in blood samples
US5639611A (en) * 1988-12-12 1997-06-17 City Of Hope Allele specific polymerase chain reaction
US5641628A (en) * 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
US5693469A (en) * 1986-11-24 1997-12-02 Gen-Probe Incorporated Nucleic acid probes and methods for detecting Escherichia coli
US6017699A (en) * 1993-09-15 2000-01-25 The University Of Pittsburgh PCR identification and quantification of important Candida species

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GB9223035D0 (en) * 1992-11-03 1992-12-16 Kiessling Cooper Ann A Preservation of peripheral blood & semen in fixatives that inactivate human pathogens
US5998141A (en) * 1997-07-10 1999-12-07 Millennium Pharmaceuticals, Inc. Intronic and polymorphic SR-BI nucleic acids and uses therefor
US6090553A (en) * 1997-10-29 2000-07-18 Beckman Coulter, Inc. Use of uracil-DNA glycosylase in genetic analysis
US6203989B1 (en) * 1998-09-30 2001-03-20 Affymetrix, Inc. Methods and compositions for amplifying detectable signals in specific binding assays
US6225061B1 (en) * 1999-03-10 2001-05-01 Sequenom, Inc. Systems and methods for performing reactions in an unsealed environment
US6387621B1 (en) * 1999-04-27 2002-05-14 University Of Utah Research Foundation Automated analysis of real-time nucleic acid amplification
CA2428757A1 (en) * 2000-11-15 2002-07-18 Roche Diagnostics Corporation Methods and reagents for identifying rare fetal cells in the maternal circulation
WO2002083839A3 (en) * 2001-03-30 2003-05-22 Motorola Inc P450 single nucleotide polymorphism biochip analysis
US6720144B1 (en) * 2001-06-21 2004-04-13 Quest Diagnostics Detection of clonal T-cell receptor-γ gene rearrangement by PCR/temporal temperature gradient gel electrophoresis (TTGE)

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5693469A (en) * 1986-11-24 1997-12-02 Gen-Probe Incorporated Nucleic acid probes and methods for detecting Escherichia coli
US5639611A (en) * 1988-12-12 1997-06-17 City Of Hope Allele specific polymerase chain reaction
US5641628A (en) * 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
US5501963A (en) * 1992-09-11 1996-03-26 Hoffmann-La Roche Inc. Amplification and detection of nucleic acids in blood samples
US6017699A (en) * 1993-09-15 2000-01-25 The University Of Pittsburgh PCR identification and quantification of important Candida species

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Title
FOREMAN ET AL: 'In Situ Polymerase Chain Reaction-based Localization Studies Support Role of Human Herpesvirus-8 as the Two AIDS-related Neoplasms: Kaposi's Sarcoma and Body Cavity Lymphoma.' J.CLINICAL INVESTIGATIONS. vol. 99, no. 12, June 1997, pages 2971 - 2978, XP002988767 *
INNIS ET AL: 'PCR Protocols: A guide to Methods and Applications.', 1990, ACADEMIC PRESS, INC. article KAWASAKI E.S. ET AL: 'Sample Preparation from Blood, Cells and Other Fluids.', XP002911425 *
LEE ET AL: 'Detection of Two Alternative bcr/abl mRNA Junctions and Minimal Residual Disease in Philadelphia Chromosome Positiv Chronic Myelogenous Leukemia by Polymerase Chain Reaction.' BLOOD. vol. 73, no. 8, 1989, pages 2165 - 2170, XP002988768 *
See also references of EP1601793A2 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7718370B2 (en) 2002-03-01 2010-05-18 Ravgen, Inc. Methods for detection of genetic disorders
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders

Also Published As

Publication number Publication date Type
WO2004078994A2 (en) 2004-09-16 application
JP2006521086A (en) 2006-09-21 application
CA2517017A1 (en) 2004-09-16 application
EP1601785A1 (en) 2005-12-07 application
EP1601785A4 (en) 2007-02-07 application
WO2004079011A1 (en) 2004-09-16 application
EP1601793A2 (en) 2005-12-07 application
EP1601793A4 (en) 2007-02-21 application

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