CA2517017A1 - Methodes pour la detection de troubles genetiques - Google Patents

Methodes pour la detection de troubles genetiques Download PDF

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Publication number
CA2517017A1
CA2517017A1 CA002517017A CA2517017A CA2517017A1 CA 2517017 A1 CA2517017 A1 CA 2517017A1 CA 002517017 A CA002517017 A CA 002517017A CA 2517017 A CA2517017 A CA 2517017A CA 2517017 A1 CA2517017 A1 CA 2517017A1
Authority
CA
Canada
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
CA002517017A
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
Individual
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 Individual filed Critical Individual
Publication of CA2517017A1 publication Critical patent/CA2517017A1/fr
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

Abstract

L'invention concerne un méthode utile pour la détection de troubles génétiques. Cette méthode consiste à déterminer la séquence d'allèles d'un locus à examiner, et à quantifier un rapport pour les allèles au niveau du locus à examiner. Ce rapport indique la présence ou l'absence d'une anormalité chromosomique. L'invention concerne également une méthode non invasive pour la détection d'anormalités chromosomiques chez un foetus. L'invention est spécifiquement utile en tant que méthode non invasive pour déterminer la séquence d'un ADN foetal. L'invention concerne également des méthodes d'isolement d'ADN libre à partir d'un échantillon.
CA002517017A 2003-02-28 2003-08-29 Methodes pour la detection de troubles genetiques Abandoned CA2517017A1 (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
USPCT/US03/06198 2003-02-28
PCT/US2003/006198 WO2003074723A2 (fr) 2002-03-01 2003-02-28 Procedes de detection de troubles genetiques
PCT/US2003/027308 WO2004079011A1 (fr) 2003-02-28 2003-08-29 Methodes pour la detection de troubles genetiques

Publications (1)

Publication Number Publication Date
CA2517017A1 true CA2517017A1 (fr) 2004-09-16

Family

ID=32961098

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002517017A Abandoned CA2517017A1 (fr) 2003-02-28 2003-08-29 Methodes pour la detection de troubles genetiques

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)

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Publication number Priority date Publication date Assignee Title
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
NZ535045A (en) 2002-03-01 2008-04-30 Ravgen Inc Rapid analysis of variations in a genome
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US20070178478A1 (en) * 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
EP1524321B2 (fr) 2003-10-16 2014-07-23 Sequenom, Inc. Détection non invasive de traits génétiques létaux
US7645576B2 (en) * 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
DK1996728T3 (da) 2006-02-28 2011-08-15 Univ Louisville Res Found Detektering af føtale chromosomale abnormiteter under anvendelse af tandem-enkeltnukleotid-polymorfismer
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
AU2015271883B2 (en) * 2007-07-23 2017-06-29 The Chinese University Of Hong Kong Determining a nucleic acid sequence imbalance using fractional fetal concentration
HUE030510T2 (hu) 2007-07-23 2017-05-29 Univ Hong Kong Chinese Magzati kromoszómális aneuploidia diagnosztizálása genomszekvenálás alkalmazásával
AU2013202160B2 (en) * 2007-07-23 2015-07-23 The Chinese University Of Hong Kong Determining percentage of fetal dna in maternal sample
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
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
CA2779695C (fr) 2009-11-05 2016-05-24 The Chinese University Of Hong Kong Analyse genomique fƒtale a partir d'un echantillon biologique maternel
AU2013203448B2 (en) * 2009-11-05 2015-05-14 Sequenom, Inc. Determining fraction of fetal dna in maternal biological sample
EP3088532B1 (fr) 2009-12-22 2019-10-30 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
EP3757210B1 (fr) 2012-03-02 2022-08-24 Sequenom, Inc. Méthodes d'enrichissement de l'acide nucléique cancer à partir d'un échantillon biologique
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
CA2878979C (fr) 2012-07-13 2021-09-14 Sequenom, Inc. Procedes et compositions pour enrichissement base sur la methylation en acide nucleique foetal dans un echantillon maternel, utiles pour les diagnostics prenatals non invasifs
CN104619858B (zh) * 2012-07-31 2017-06-06 深圳华大基因股份有限公司 胎儿健康状态的无创性检测
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
WO2015138774A1 (fr) 2014-03-13 2015-09-17 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

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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
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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
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
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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
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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
WO2004078994A3 (fr) 2005-10-13
EP1601793A2 (fr) 2005-12-07
JP2006521086A (ja) 2006-09-21
EP1601793A4 (fr) 2007-02-21
WO2004079011A1 (fr) 2004-09-16
WO2004078994A2 (fr) 2004-09-16
AU2003268333A1 (en) 2004-09-28
EP1601785A4 (fr) 2007-02-07
EP1601785A1 (fr) 2005-12-07
SG173221A1 (en) 2011-08-29
MXPA05009140A (es) 2006-04-28

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Legal Events

Date Code Title Description
EEER Examination request
FZDE Discontinued