DK2726629T3 - Fremgangsmåde til bestemmelse af dna-mismatch-repairfunktion - Google Patents

Fremgangsmåde til bestemmelse af dna-mismatch-repairfunktion Download PDF

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Publication number
DK2726629T3
DK2726629T3 DK12729995.6T DK12729995T DK2726629T3 DK 2726629 T3 DK2726629 T3 DK 2726629T3 DK 12729995 T DK12729995 T DK 12729995T DK 2726629 T3 DK2726629 T3 DK 2726629T3
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mmr
cells
nuclear
repair
dna
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DK12729995.6T
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Minna Nyström
Minttu Kansikas
Päivi Peltomäki
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Helsingin Yliopisto
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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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Claims (7)

1. In vitro-fremgangsmåde til bestemmelse af, om et humant individ har en forringet DNA-mismatch-repairfunktion, hvilken fremgangsmåde omfatter: a) at dyrke primære fibroblaster, der er afledt af en ikke-malign konstitutiv vævsprøve af det nævnte humane individ, b) at fremstille et nuklearproteinekstrakt fra de nævnte dyrkede primære fibroblastceller af det nævnte humane individ, c) at tilvejebringe MMR-proficiente MMR+/+ og MMR-deficiente MMR-/-nuklearproteinekstrakter fra cellelinjer som henholdsvis positive og negative kontroller, d) at kombinere hvert af nuklearproteinekstrakterne med mindst et mismatch-bærende heteroduplex-DNA-substrat i separate hætteglas, e) at udføre et mismatch-repair-assay på nuklearproteinekstrakterne og f) at kvantitativt bestemme kapaciteten af nuklearproteinekstrakten af de primære fibroblastceller for at reparere det nævnte substrat-DNA-molekyle, hvor et fald i repair-effektivitet i forhold til den positive kontrol er en indikation på en forringet DNA-mismatch-repair-funktion i individet.
2. Fremgangsmåden ifølge krav 1, hvor substratet er afledt fra et plasmid, der harSEQ ID NO: 1.
3. Fremgangsmåden ifølge krav 2, hvor substratet yderligere omfatter en nucleinsyresekvens, der er valgt fra gruppen, som består af SEQ ID NO: 2 og SEQ ID NO: 3.
4. Fremgangsmåde ifølge et hvilket som helst af kravene 1-3, hvor det nævnte MMR-deficiente nuklearekstrakt er afledt fra en cellelinie, der er valgt fra gruppen, som består af HCT116- og LoVo-celler.
5. Fremgangsmåden ifølge krav 4, hvor den totale mængde nuklearekstrakt pr. hætteglas er i området 50-500 pg eller 50-200 pg.
6. Fremgangsmåde til in-vitro-diagnosticering af Lynch-syndrom hos et humant individ ved at følge en fremgangsmåde ifølge et hvilket som helst af kravene 1-3, hvor primære fibroblastceller er fra en klinisk prøve, der er opnået fra et ikke-malignt konstitutivt væv fra et humant individ.
7. Fremgangsmåden ifølge krav 6, hvor DNA-mismatch-repair-genet er valgt fra gruppen, der består af MLH1, MSH2, MSH6, MLH3, MSH3, PMS1, PMS2 og EX01.
DK12729995.6T 2011-07-01 2012-06-29 Fremgangsmåde til bestemmelse af dna-mismatch-repairfunktion DK2726629T3 (da)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161503735P 2011-07-01 2011-07-01
FI20115709A FI20115709A0 (fi) 2011-07-01 2011-07-01 Menetelmä perinnöllisten syöpien diagnosointiin
PCT/EP2012/062708 WO2013004618A1 (en) 2011-07-01 2012-06-29 Method to determine dna mismatch repair function

Publications (1)

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DK2726629T3 true DK2726629T3 (da) 2017-12-11

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US (1) US9994899B2 (da)
EP (1) EP2726629B1 (da)
JP (1) JP5897706B2 (da)
CN (1) CN103827316B (da)
AU (1) AU2012280397B2 (da)
BR (1) BR112013033478B1 (da)
CA (1) CA2840526C (da)
DK (1) DK2726629T3 (da)
ES (1) ES2646394T3 (da)
FI (1) FI20115709A0 (da)
IL (1) IL230002A (da)
PL (1) PL2726629T3 (da)
PT (1) PT2726629T (da)
RU (1) RU2597290C2 (da)
WO (1) WO2013004618A1 (da)

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Publication number Priority date Publication date Assignee Title
CN107236037B (zh) * 2016-03-29 2020-09-29 博奥颐和健康科学技术（北京）有限公司 一种突变的msh6蛋白及其编码基因、应用
US20210275630A1 (en) * 2016-04-18 2021-09-09 Phoremost Limited Inactivation of dna repair as an anticancer therapy
KR102515509B1 (ko) 2016-06-03 2023-03-28 브리스톨-마이어스 스큅 컴퍼니 결장직장암을 갖는 환자의 치료에서의 항-pd-1 항체의 용도
US11773449B2 (en) 2017-09-01 2023-10-03 The Hospital For Sick Children Profiling and treatment of hypermutant cancer
CN112501170A (zh) * 2020-11-30 2021-03-16 武汉爱博泰克生物科技有限公司 一种构建mlh1基因敲除细胞系的方法
WO2022184907A1 (en) * 2021-03-04 2022-09-09 Lxrepair Multiplex quantitative assay for dna double-strand break repair activities in a biological medium and its applications

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US7148016B1 (en) * 1999-01-14 2006-12-12 Ca*Tx Inc. Immunoassays to detect diseases or disease susceptibility traits
CN114921544A (zh) * 2005-04-15 2022-08-19 Epi基因组股份公司 分析细胞增殖性病症的方法和核酸
GB0709445D0 (en) * 2007-05-17 2007-06-27 Academisch Ziekenhuis Leiden Functional assay to investigate unclassified sequence variants of mismatch repair genes

Also Published As

Publication number Publication date
FI20115709A0 (fi) 2011-07-01
JP2014520515A (ja) 2014-08-25
CN103827316B (zh) 2017-06-23
IL230002A (en) 2016-06-30
BR112013033478B1 (pt) 2020-04-14
PT2726629T (pt) 2017-12-06
CA2840526C (en) 2019-03-19
BR112013033478A2 (pt) 2017-03-01
US20140220559A1 (en) 2014-08-07
ES2646394T3 (es) 2017-12-13
CN103827316A (zh) 2014-05-28
RU2014103137A (ru) 2015-08-10
JP5897706B2 (ja) 2016-03-30
PL2726629T3 (pl) 2018-02-28
CA2840526A1 (en) 2013-01-10
AU2012280397A1 (en) 2014-01-09
EP2726629A1 (en) 2014-05-07
WO2013004618A1 (en) 2013-01-10
EP2726629B1 (en) 2017-08-30
US9994899B2 (en) 2018-06-12
AU2012280397B2 (en) 2015-08-13
RU2597290C2 (ru) 2016-09-10

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