ATE311475T1 - Verfahren zur identifizierung von punkt mutationen in einem genom - Google Patents

Verfahren zur identifizierung von punkt mutationen in einem genom

Info

Publication number
ATE311475T1
ATE311475T1 AT99965222T AT99965222T ATE311475T1 AT E311475 T1 ATE311475 T1 AT E311475T1 AT 99965222 T AT99965222 T AT 99965222T AT 99965222 T AT99965222 T AT 99965222T AT E311475 T1 ATE311475 T1 AT E311475T1
Authority
AT
Austria
Prior art keywords
mutations
point mutations
genome
population
juveniles
Prior art date
Application number
AT99965222T
Other languages
English (en)
Inventor
William G Thilly
Original Assignee
Massachusetts Inst Technology
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 Massachusetts Inst Technology filed Critical Massachusetts Inst Technology
Application granted granted Critical
Publication of ATE311475T1 publication Critical patent/ATE311475T1/de

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6858Allele-specific amplification
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/118Prognosis of disease development

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Nitrogen And Oxygen Or Sulfur-Condensed Heterocyclic Ring Systems (AREA)
AT99965222T 1998-12-09 1999-12-09 Verfahren zur identifizierung von punkt mutationen in einem genom ATE311475T1 (de)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US11145798P 1998-12-09 1998-12-09
PCT/US1999/029379 WO2000034652A2 (en) 1998-12-09 1999-12-09 Methods of identifying point mutations in a genome

Publications (1)

Publication Number Publication Date
ATE311475T1 true ATE311475T1 (de) 2005-12-15

Family

ID=22338669

Family Applications (1)

Application Number Title Priority Date Filing Date
AT99965222T ATE311475T1 (de) 1998-12-09 1999-12-09 Verfahren zur identifizierung von punkt mutationen in einem genom

Country Status (7)

Country Link
EP (1) EP1137811B1 (de)
JP (1) JP2002531147A (de)
AT (1) ATE311475T1 (de)
AU (1) AU3118600A (de)
CA (1) CA2354322A1 (de)
DE (1) DE69928688T2 (de)
WO (1) WO2000034652A2 (de)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6455692B1 (en) 1998-08-04 2002-09-24 Transgenomic, Inc. Method of concentrating polynucleotides using MIPC
US6994962B1 (en) 1998-12-09 2006-02-07 Massachusetts Institute Of Technology Methods of identifying point mutations in a genome
US7807447B1 (en) 2000-08-25 2010-10-05 Merck Sharp & Dohme Corp. Compositions and methods for exon profiling
US20020132244A1 (en) 2000-09-27 2002-09-19 Xiao-Cheng Li-Sucholeiki Methods for detecting rare polymorphic variants in genomic DNA sequences
JP2002153299A (ja) * 2000-11-22 2002-05-28 Sumikin Bioscience Kk ヒト補体活性化レクチンRaRFの構成成分MASP−1の遺伝子多型
EP1798291B1 (de) * 2005-12-13 2011-05-18 Institut Curie Verfahren für die Detektion von Mutationen in Nukleinsaüren, und die Anwendung in der Diagnose von genetischen Krankheiten und Krebs
US8609338B2 (en) 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
EP2351858B1 (de) 2006-02-28 2014-12-31 University of Louisville Research Foundation Erkennung von Chromosomabnormalitäten im Fötus mithilfe der Tandem-Einzelnukleotid-Polymorphismen
US20100184044A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
US20150362491A1 (en) * 2013-01-14 2015-12-17 The General Hospital Corporation Methods and assays relating to rnf216
JP6700376B2 (ja) * 2015-07-29 2020-05-27 コーニンクレッカ フィリップス エヌ ヴェKoninklijke Philips N.V. 有意性が未知のバリアントに優先順位をつけるシステム及び方法
US11978535B2 (en) * 2017-02-01 2024-05-07 The Translational Genomics Research Institute Methods of detecting somatic and germline variants in impure tumors
CN114517223B (zh) * 2020-11-20 2023-09-12 福建和瑞基因科技有限公司 一种用于筛选snp位点的方法及其应用

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5633129A (en) * 1989-07-13 1997-05-27 Massachusetts Institute Of Technology Electrophoretic detection and separation of mutant DNA using replaceable polymer matrices
US5045450A (en) * 1989-07-13 1991-09-03 Massachusetts Institute Of Technology Determination of a mutational spectrum

Also Published As

Publication number Publication date
WO2000034652A8 (en) 2000-08-24
EP1137811A2 (de) 2001-10-04
JP2002531147A (ja) 2002-09-24
AU3118600A (en) 2000-06-26
DE69928688T2 (de) 2006-08-24
DE69928688D1 (de) 2006-01-05
EP1137811B1 (de) 2005-11-30
CA2354322A1 (en) 2000-06-15
WO2000034652A2 (en) 2000-06-15
WO2000034652A3 (en) 2000-11-09

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