WO1999001580A1 - Compositions et procedes de detection de dysfonctionnements d'empreinte genomique - Google Patents

Compositions et procedes de detection de dysfonctionnements d'empreinte genomique Download PDF

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Publication number
WO1999001580A1
WO1999001580A1 PCT/US1998/013818 US9813818W WO9901580A1 WO 1999001580 A1 WO1999001580 A1 WO 1999001580A1 US 9813818 W US9813818 W US 9813818W WO 9901580 A1 WO9901580 A1 WO 9901580A1
Authority
WO
WIPO (PCT)
Prior art keywords
dna
methylation
primers
pcr
seq
Prior art date
Application number
PCT/US1998/013818
Other languages
English (en)
Inventor
Robert D. Nicholls
Shinji Saitoh
Original Assignee
Case Western Reserve University
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 Case Western Reserve University filed Critical Case Western Reserve University
Priority to AU83816/98A priority Critical patent/AU8381698A/en
Publication of WO1999001580A1 publication Critical patent/WO1999001580A1/fr

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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
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification
    • 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
    • C12Q2600/154—Methylation markers
    • 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
    • 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
    • C12Q2600/16—Primer sets for multiplex assays

Abstract

La présente invention concerne des procédés et des compositions permettant d'identifier des anomalies génétiques associées à des dysfonctionnements d'empreinte génomique. Selon certains modes de réalisation, le procédé de la présente invention implique la digestion de l'échantillon d'ADN par des enzymes de restriction sensibles à la méthylation, puis une amplification ou une liaison à des amorces-ancres, et ensuite une amplification. La présente invention facilite le diagnostic rapide et détaillé des principaux génotypes responsables des syndromes d'empreinte génomique.
PCT/US1998/013818 1997-07-03 1998-07-02 Compositions et procedes de detection de dysfonctionnements d'empreinte genomique WO1999001580A1 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU83816/98A AU8381698A (en) 1997-07-03 1998-07-02 Compositions and methods for detection of genomic imprinting disorders

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US88756997A 1997-07-03 1997-07-03
US08/887,569 1997-07-03

Publications (1)

Publication Number Publication Date
WO1999001580A1 true WO1999001580A1 (fr) 1999-01-14

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US1998/013818 WO1999001580A1 (fr) 1997-07-03 1998-07-02 Compositions et procedes de detection de dysfonctionnements d'empreinte genomique

Country Status (2)

Country Link
AU (1) AU8381698A (fr)
WO (1) WO1999001580A1 (fr)

Cited By (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001006005A2 (fr) * 1999-07-15 2001-01-25 The University Of Bristol Methode diagnostique
EP1461458A2 (fr) * 2001-12-03 2004-09-29 Illumina, Inc. Procedes multiplexes de detection de methylation
WO2005028674A2 (fr) * 2003-09-22 2005-03-31 Trisogen Biotechnology Limited Partnership Procede et kits utilises pour detecter une modification dans le nombre de copies d'un locus
WO2005090598A1 (fr) * 2004-01-30 2005-09-29 Eberhard-Karls-Universität Tübingen Diagnostic de disomie uniparentale a l'aide de polymorphismes d'un seul nucleotide
DE102005007185A1 (de) * 2005-02-16 2006-08-17 Epigenomics Ag Verfahren zur Herstellung einer Mischung von Fragmenten einer Polynukleinsäure
US7413864B2 (en) 1997-04-18 2008-08-19 Geron Corporation Treating cancer using a telomerase vaccine
US8906626B2 (en) 2000-02-07 2014-12-09 Illumina, Inc. Multiplex nucleic acid reactions
CN114015771A (zh) * 2022-01-05 2022-02-08 北京华诺奥美基因医学检验实验室有限公司 一种snrpn父源缺失的检测引物组、试剂盒及非诊断目的的检测方法

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
SUTCLIFFE J. S., ET AL.: "DELETIONS OF A DIFFERENTIALLY METHYLATED CPG ISLAND AT THE SNRPN GENE DEFINE A PUTATIVE IMPRINTING CONTROL REGION.", NATURE GENETICS., NATURE PUBLISHING GROUP, NEW YORK, US, vol. 08., 1 September 1994 (1994-09-01), NEW YORK, US, pages 52 - 58., XP002912861, ISSN: 1061-4036, DOI: 10.1038/ng0994-52 *
WU D. Y., WALLAC3E R. B.: "THE LIGATION AMPLIFICATION REACTION (LAR) - AMPLIFICATION OF SPECIFIC DNA SEQUENCES USING SEQUENTIAL ROUNDS OF TEMPLATE-DEPENDENT LIGATION.", GENOMICS, ACADEMIC PRESS, SAN DIEGO., US, vol. 04., 1 January 1989 (1989-01-01), US, pages 560 - 569., XP002912862, ISSN: 0888-7543, DOI: 10.1016/0888-7543(89)90280-2 *

Cited By (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7413864B2 (en) 1997-04-18 2008-08-19 Geron Corporation Treating cancer using a telomerase vaccine
WO2001006005A3 (fr) * 1999-07-15 2001-05-25 Univ Bristol Methode diagnostique
WO2001006005A2 (fr) * 1999-07-15 2001-01-25 The University Of Bristol Methode diagnostique
US10837059B2 (en) 2000-02-07 2020-11-17 Illumina, Inc. Multiplex nucleic acid reactions
US9850536B2 (en) 2000-02-07 2017-12-26 Illumina, Inc. Multiplex nucleic acid reactions
US8906626B2 (en) 2000-02-07 2014-12-09 Illumina, Inc. Multiplex nucleic acid reactions
EP1461458A2 (fr) * 2001-12-03 2004-09-29 Illumina, Inc. Procedes multiplexes de detection de methylation
EP1461458A4 (fr) * 2001-12-03 2005-10-26 Illumina Inc Procedes multiplexes de detection de methylation
WO2005028674A2 (fr) * 2003-09-22 2005-03-31 Trisogen Biotechnology Limited Partnership Procede et kits utilises pour detecter une modification dans le nombre de copies d'un locus
EP2186914A2 (fr) * 2003-09-22 2010-05-19 Trisogen Biotechnology Limited Partnership Méthodes et kits pour la détection de modifications du nombre de copies d'un locus
EP2186914A3 (fr) * 2003-09-22 2010-07-21 Trisogen Biotechnology Limited Partnership Méthodes et kits pour la détection de modifications du nombre de copies d'un locus
WO2005028674A3 (fr) * 2003-09-22 2005-09-01 Trisogen Biotechnology Ltd Par Procede et kits utilises pour detecter une modification dans le nombre de copies d'un locus
WO2005090598A1 (fr) * 2004-01-30 2005-09-29 Eberhard-Karls-Universität Tübingen Diagnostic de disomie uniparentale a l'aide de polymorphismes d'un seul nucleotide
DE102005007185A1 (de) * 2005-02-16 2006-08-17 Epigenomics Ag Verfahren zur Herstellung einer Mischung von Fragmenten einer Polynukleinsäure
CN114015771A (zh) * 2022-01-05 2022-02-08 北京华诺奥美基因医学检验实验室有限公司 一种snrpn父源缺失的检测引物组、试剂盒及非诊断目的的检测方法

Also Published As

Publication number Publication date
AU8381698A (en) 1999-01-25

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