AU2003268333A1 - Methods for detection of genetic disorders - Google Patents

Methods for detection of genetic disorders Download PDF

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Publication number
AU2003268333A1
AU2003268333A1 AU2003268333A AU2003268333A AU2003268333A1 AU 2003268333 A1 AU2003268333 A1 AU 2003268333A1 AU 2003268333 A AU2003268333 A AU 2003268333A AU 2003268333 A AU2003268333 A AU 2003268333A AU 2003268333 A1 AU2003268333 A1 AU 2003268333A1
Authority
AU
Australia
Prior art keywords
dna
fetal dna
interest
locus
primer
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.)
Abandoned
Application number
AU2003268333A
Other languages
English (en)
Inventor
Ravinder Dhallan
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.)
Ravgen Inc
Original Assignee
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
Priority claimed from PCT/US2003/006198 external-priority patent/WO2003074723A2/fr
Application filed by Ravgen Inc filed Critical Ravgen Inc
Publication of AU2003268333A1 publication Critical patent/AU2003268333A1/en
Abandoned legal-status Critical Current

Links

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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/02—Compounds 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
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/04—Compounds 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
    • 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
    • C12Q1/6869—Methods for sequencing
AU2003268333A 2003-02-28 2003-08-29 Methods for detection of genetic disorders Abandoned AU2003268333A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
PCT/US2003/006198 WO2003074723A2 (fr) 2002-03-01 2003-02-28 Procedes de detection de troubles genetiques
AUPCT/US2003/006198 2003-02-28
PCT/US2003/027308 WO2004079011A1 (fr) 2003-02-28 2003-08-29 Methodes pour la detection de troubles genetiques

Publications (1)

Publication Number Publication Date
AU2003268333A1 true AU2003268333A1 (en) 2004-09-28

Family

ID=32961098

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2003268333A Abandoned AU2003268333A1 (en) 2003-02-28 2003-08-29 Methods for detection of genetic disorders

Country Status (7)

Country Link
EP (2) EP1601785A4 (fr)
JP (1) JP2006521086A (fr)
AU (1) AU2003268333A1 (fr)
CA (1) CA2517017A1 (fr)
MX (1) MXPA05009140A (fr)
SG (1) SG173221A1 (fr)
WO (2) WO2004079011A1 (fr)

Families Citing this family (31)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
MXPA04008477A (es) 2002-03-01 2005-10-26 Ravgen Inc Metodos para deteccion de trastornos geneticos.
US6977162B2 (en) 2002-03-01 2005-12-20 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
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
AU2006224971B2 (en) * 2005-03-18 2009-07-02 Boston University A method for the detection of chromosomal aneuploidies
AU2007220991C1 (en) 2006-02-28 2013-08-15 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
US20090029377A1 (en) 2007-07-23 2009-01-29 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
AU2013202160B2 (en) * 2007-07-23 2015-07-23 The Chinese University Of Hong Kong Determining percentage of fetal dna in maternal sample
AU2015271883B2 (en) * 2007-07-23 2017-06-29 The Chinese University Of Hong Kong Determining a nucleic acid sequence imbalance using fractional fetal concentration
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
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
AU2013203446B2 (en) * 2009-11-05 2015-05-14 Sequenom, Inc. Identifying a de novo fetal mutation from a maternal biological sample
FI3783110T3 (fi) 2009-11-05 2023-03-02 Fetaalisen genomin analyysi maternaalisesta biologisesta näytteestä
EP3660165B1 (fr) 2009-12-22 2023-01-04 Sequenom, Inc. Procédés et kits pour identifier une aneuploïdie
CN101962684B (zh) * 2010-11-04 2012-03-28 徐州师范大学 黄牛pcsk1基因的单核苷酸多态性及其检测方法
EP2820129A1 (fr) 2012-03-02 2015-01-07 Sequenom, Inc. Méthodes et procédés d'évaluation non effractive de variations génétiques
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
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
WO2014019275A1 (fr) * 2012-07-31 2014-02-06 Bgi Shenzhen Co., Limited Détection non invasive de l'état de santé fœtal
EP2971100A1 (fr) 2013-03-13 2016-01-20 Sequenom, Inc. Amorces pour analyse de la méthylation de l'adn
RU2557976C2 (ru) * 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) Способ определения чувствительности клеток рака легкого к цисплатину на основании уровней экспрессии маркерных генов и набор для его осуществления
EP3736344A1 (fr) 2014-03-13 2020-11-11 Sequenom, Inc. Méthodes et procédés d'évaluation non invasive de variations génétiques
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
WO2019013613A2 (fr) 2017-07-09 2019-01-17 Hakken Enterprise Sa De Cv Procédés et trousses permettant de déterminer un risque de cancer
CN111378721B (zh) * 2020-04-16 2023-06-23 广西壮族自治区水产科学研究院 凡纳滨对虾耐亚硝酸盐氮性状相关的分子标记及其筛选
JP2023184021A (ja) * 2022-06-17 2023-12-28 株式会社日立製作所 遺伝子分析方法、遺伝子分析装置、及び遺伝子分析用キット

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5541308A (en) * 1986-11-24 1996-07-30 Gen-Probe Incorporated Nucleic acid probes for detection and/or quantitation of non-viral organisms
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
DE69332852T2 (de) * 1992-09-11 2003-12-04 Hoffmann La Roche Nachweis von Nukleinsäuren im Blut
GB9223035D0 (en) * 1992-11-03 1992-12-16 Kiessling Cooper Ann A Preservation of peripheral blood & semen in fixatives that inactivate human pathogens
US6017699A (en) * 1993-09-15 2000-01-25 The University Of Pittsburgh PCR identification and quantification of important Candida species
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
GB0016742D0 (en) * 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
CA2428757A1 (fr) * 2000-11-15 2002-07-18 Roche Diagnostics Corporation Methodes et reactifs permettant d'identifier des cellules embryonnaires rares dans le systeme circulatoire maternel
US6986992B2 (en) * 2001-03-30 2006-01-17 Amersham Biosciences Ab 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)

Also Published As

Publication number Publication date
EP1601793A4 (fr) 2007-02-21
WO2004078994A3 (fr) 2005-10-13
JP2006521086A (ja) 2006-09-21
EP1601785A4 (fr) 2007-02-07
EP1601793A2 (fr) 2005-12-07
SG173221A1 (en) 2011-08-29
MXPA05009140A (es) 2006-04-28
WO2004079011A1 (fr) 2004-09-16
CA2517017A1 (fr) 2004-09-16
EP1601785A1 (fr) 2005-12-07
WO2004078994A2 (fr) 2004-09-16

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Legal Events

Date Code Title Description
MK5 Application lapsed section 142(2)(e) - patent request and compl. specification not accepted