WO1999022022A3 - Testverfahren zur identifizierung von personen mit defektem mismatch-reparatursystem - Google Patents

Testverfahren zur identifizierung von personen mit defektem mismatch-reparatursystem Download PDF

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Publication number
WO1999022022A3
WO1999022022A3 PCT/EP1998/006836 EP9806836W WO9922022A3 WO 1999022022 A3 WO1999022022 A3 WO 1999022022A3 EP 9806836 W EP9806836 W EP 9806836W WO 9922022 A3 WO9922022 A3 WO 9922022A3
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WO
WIPO (PCT)
Prior art keywords
dna
test procedure
specific primers
cells
mismatch repair
Prior art date
Application number
PCT/EP1998/006836
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English (en)
French (fr)
Other versions
WO1999022022A2 (de
Inventor
Manfred Gross
Original Assignee
Manfred Gross
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.)
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Publication date
Application filed by Manfred Gross filed Critical Manfred Gross
Publication of WO1999022022A2 publication Critical patent/WO1999022022A2/de
Publication of WO1999022022A3 publication Critical patent/WO1999022022A3/de

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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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Hospice & Palliative Care (AREA)
  • Biophysics (AREA)
  • Oncology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Die Erfindung betrifft ein Testverfahren zur Feststellung des Vorliegens eines erblich bedingten Defekts im Mismatch-Reparatursystem (MMR-System) bzw. zur Feststellung des Vorliegens von erblich bedingtem nicht-polypösem Colonkarzinom ('hereditary non-polyposis colorectal cancer'; HNPCC) oder einer diesbezüglichen Prädisposition bei einer zu untersuchenden Person. Es umfaßt die Kultivierung nicht-neoplastischer Zellen der zu untersuchenden Person unter Bedingungen, die Zellteilung erlauben, wobei vor und/oder während der Kultivierung ein mutagener Stimulus gegeben wird. Es umfaßt ferner die Herstellung mehrerer DNA-Proben aus den kultivierten Zellen, die jeweils in ihrer DNA-Menge oder bezüglich der in ihnen enthaltenen Sequenzinformation der genomischen DNA etwa einer oder einiger weniger dieser Zellen entsprechen. Es umfaßt schließlich die Amplifikation bestimmter Abschnitte der DNA-Proben mittels Polymerase-Kettenreaktion ('polymerase chain reaction'; PCR) unter Einsatz sequenzspezifischer Primer, insbesondere Mikrosatelliten-DNA-spezifischer Primer, und die Analyse der Amplifikationsprodukte hinsichtlich erhöhten Auftretens von Mutationen innerhalb der amplifizierten Sequenzen. In einem weiteren Aspekt betrifft die Erfindung die Verwendung von Mikrosatelliten-DNA-spezifischen Primern in dem erfindungsgemäßen Verfahren.
PCT/EP1998/006836 1997-10-29 1998-10-28 Testverfahren zur identifizierung von personen mit defektem mismatch-reparatursystem WO1999022022A2 (de)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
DE19747748.8 1997-10-29
DE19747748A DE19747748A1 (de) 1997-10-29 1997-10-29 Testverfahren zur Identifizierung von Personen mit defektem Mismatch-Reparatursystem

Publications (2)

Publication Number Publication Date
WO1999022022A2 WO1999022022A2 (de) 1999-05-06
WO1999022022A3 true WO1999022022A3 (de) 1999-07-15

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP1998/006836 WO1999022022A2 (de) 1997-10-29 1998-10-28 Testverfahren zur identifizierung von personen mit defektem mismatch-reparatursystem

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DE (1) DE19747748A1 (de)
WO (1) WO1999022022A2 (de)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN1314408A (zh) * 2000-03-22 2001-09-26 上海博德基因开发有限公司 一种新的多肽——人dna错配修复基因蛋白9和编码这种多肽的多核苷酸
DE10214788A1 (de) * 2002-04-04 2003-10-23 Universitaetsklinikum Hamburg Verfahren zum Nachweis einer Mutation an einem für hereditäre kolorektale Tumoren prädisponieredem Gen
WO2019183286A1 (en) * 2018-03-20 2019-09-26 GenID Solutions, LLC Systems and methods for monitoring subjects for hereditary cancers

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995015381A2 (en) * 1993-12-02 1995-06-08 The Johns Hopkins University HUMAN MUTATOR GENE hMSH2 AND HEREDITARY NON POLYPOSIS COLORECTAL CANCER
WO1995016793A1 (en) * 1993-12-17 1995-06-22 Oregon Health Sciences University Compositions and methods relating to dna mismatch repair genes
DE19712332A1 (de) * 1997-03-25 1998-10-01 Boehringer Mannheim Gmbh Verfahren zum Nachweis von Mikrosatelliten-Instabilität zur Tumordiagnostik

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995015381A2 (en) * 1993-12-02 1995-06-08 The Johns Hopkins University HUMAN MUTATOR GENE hMSH2 AND HEREDITARY NON POLYPOSIS COLORECTAL CANCER
WO1995016793A1 (en) * 1993-12-17 1995-06-22 Oregon Health Sciences University Compositions and methods relating to dna mismatch repair genes
DE19712332A1 (de) * 1997-03-25 1998-10-01 Boehringer Mannheim Gmbh Verfahren zum Nachweis von Mikrosatelliten-Instabilität zur Tumordiagnostik

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
AQUILINA G ET AL: "A MISMATCH RECOGNITION DEFECT IN COLON CARCINOMA CONFERS DNA MICROSATELLITE INSTABILITY AND A MUTATOR PHENOTYPE", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, vol. 91, no. 19, 13 September 1994 (1994-09-13), pages 8905 - 8909, XP000615501 *
KOLODNER R.D. ET AL.,: "Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations", CANCER RESEARCH, vol. 55, - 15 January 1995 (1995-01-15), pages 242 - 248, XP002101596 *
S N THIBODEAU ET AL: "Microsatellite instability in cancer of the proximal colon", SCIENCE, vol. 260, 7 May 1993 (1993-05-07), pages 816 - 819, XP002079188 *
UMAR A ET AL: "DEFECTIVE MISMATCH REPAIR IN EXTRACTS OF COLORECTAL AND ENDOMETRIALCANCER CELL LINES EXHIBITING MICROSATELLITE INSTABILITY", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 269, no. 20, 20 May 1994 (1994-05-20), pages 14367 - 14370, XP000615519 *

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Publication number Publication date
DE19747748A1 (de) 1999-05-06
WO1999022022A2 (de) 1999-05-06

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