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
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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

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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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Materials By The Use Of Chemical Reactions (AREA)

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)

Families Citing this family (34)

* Cited by examiner, † Cited by third party
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
WO2003074740A1 (fr) 2002-03-01 2003-09-12 Ravgen, Inc. Analyse rapide de variations dans un 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
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
CA2601221C (fr) * 2005-03-18 2013-08-06 The Chinese University Of Hong Kong Procede pour la detection des aneuploidies chromosomiques
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
EP2351858B1 (fr) * 2006-02-28 2014-12-31 University of Louisville Research Foundation Détection d'anomalies chromosomiques du f'tus à l'aide de polymorphismes de nucléotides uniques en tandem
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
AU2015271883B2 (en) * 2007-07-23 2017-06-29 The Chinese University Of Hong Kong Determining a nucleic acid sequence imbalance using fractional fetal concentration
LT2557517T (lt) 2007-07-23 2023-01-10 The Chinese University Of Hong Kong Nukleino rūgščių sekos disbalanso nustatymas
AU2013202157B2 (en) * 2007-07-23 2015-04-30 The Chinese University Of Hong Kong Noninvasively determining a fetal genotype at a maternal heterozygous locus
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
AU2013203448B2 (en) * 2009-11-05 2015-05-14 Sequenom, Inc. Determining fraction of fetal dna in maternal biological sample
LT3783110T (lt) 2009-11-05 2023-01-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
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
HK1206055A1 (en) 2012-03-02 2015-12-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
US10504613B2 (en) 2012-12-20 2019-12-10 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
WO2014019275A1 (fr) * 2012-07-31 2014-02-06 Bgi Shenzhen Co., Limited Détection non invasive de l'état de santé fœtal
HK1216655A1 (zh) 2013-03-13 2016-11-25 Sequenom, Inc. 用於dna甲基化分析的引物
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
US11365447B2 (en) 2014-03-13 2022-06-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
US11555764B1 (en) * 2019-11-25 2023-01-17 Patient Knowhow, Inc. Dynamic modification of bioaerosol detection with genetic identification
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
JP7756602B2 (ja) * 2022-06-17 2025-10-20 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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EP1368369A4 (fr) * 2000-11-15 2006-02-22 Hoffmann La Roche Methodes et reactifs permettant d'identifier des cellules embryonnaires rares dans le systeme circulatoire maternel
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Also Published As

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

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Legal Events

Date Code Title Description
EEER Examination request
FZDE Discontinued