CA2179012A1 - Molecular diagnosis of familial adenomatous polyposis - Google Patents

Molecular diagnosis of familial adenomatous polyposis

Info

Publication number
CA2179012A1
CA2179012A1 CA002179012A CA2179012A CA2179012A1 CA 2179012 A1 CA2179012 A1 CA 2179012A1 CA 002179012 A CA002179012 A CA 002179012A CA 2179012 A CA2179012 A CA 2179012A CA 2179012 A1 CA2179012 A1 CA 2179012A1
Authority
CA
Canada
Prior art keywords
diagnosis
adenomatous polyposis
familial adenomatous
molecular diagnosis
genetic diseases
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.)
Granted
Application number
CA002179012A
Other languages
French (fr)
Other versions
CA2179012C (en
Inventor
Kenneth W. Kinzler
Bert Vogelstein
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.)
Johns Hopkins University
Original Assignee
Kenneth W. Kinzler
Bert Vogelstein
The Johns Hopkins 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 Kenneth W. Kinzler, Bert Vogelstein, The Johns Hopkins University filed Critical Kenneth W. Kinzler
Publication of CA2179012A1 publication Critical patent/CA2179012A1/en
Application granted granted Critical
Publication of CA2179012C publication Critical patent/CA2179012C/en
Anticipated expiration legal-status Critical
Expired - Lifetime 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6865—Promoter-based amplification, e.g. nucleic acid sequence amplification [NASBA], self-sustained sequence replication [3SR] or transcription-based amplification system [TAS]
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6853—Nucleic acid amplification reactions using modified primers or templates
    • 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
    • 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
    • C12Q1/6862—Ligase chain reaction [LCR]
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S435/00—Chemistry: molecular biology and microbiology
    • Y10S435/81—Packaged device or kit

Abstract

A two-pronged method for diagnosis of genetic diseases can detect mutations in about 87 % of familial adenomatous polyposis (FAP) patients. One part of the diagnosis method employs in vitro protein synthesis from surrogate genes created by amplifying either cDNA or genomic DNA.
The second part of the diagnostic method employs an allele-specific expression assay which distinguishes the amount of mRNA
expressed in vivo from each of a patient's two alleles. These approaches are readily applicable to the diagnosis of other genetic diseases.
CA002179012A 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis Expired - Lifetime CA2179012C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US08/169,303 US5709998A (en) 1993-12-15 1993-12-15 Molecular diagnosis of familial adenomatous polyposis
US169,303 1993-12-15
PCT/US1994/013910 WO1995017523A2 (en) 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis

Publications (2)

Publication Number Publication Date
CA2179012A1 true CA2179012A1 (en) 1995-06-29
CA2179012C CA2179012C (en) 2006-10-31

Family

ID=22615099

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002179012A Expired - Lifetime CA2179012C (en) 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis

Country Status (7)

Country Link
US (2) US5709998A (en)
EP (1) EP0734456B1 (en)
JP (1) JPH09506775A (en)
AT (1) ATE233824T1 (en)
CA (1) CA2179012C (en)
DE (1) DE69432225T2 (en)
WO (1) WO1995017523A2 (en)

Families Citing this family (44)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5643722A (en) 1994-05-11 1997-07-01 Trustees Of Boston University Methods for the detection and isolation of proteins
US6210941B1 (en) 1997-06-27 2001-04-03 The Trustees Of Boston University Methods for the detection and isolation of proteins
US6100029A (en) * 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US6146828A (en) * 1996-08-14 2000-11-14 Exact Laboratories, Inc. Methods for detecting differences in RNA expression levels and uses therefor
US6020137A (en) * 1996-08-14 2000-02-01 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US5928870A (en) * 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
US6203993B1 (en) 1996-08-14 2001-03-20 Exact Science Corp. Methods for the detection of nucleic acids
US6235474B1 (en) * 1996-12-30 2001-05-22 The Johns Hopkins University Methods and kits for diagnosing and determination of the predisposition for diseases
US5879890A (en) * 1997-01-31 1999-03-09 The Johns Hopkins University APC mutation associated with familial colorectal cancer in Ashkenazi jews
ATE319856T1 (en) * 1997-06-13 2006-03-15 Affymetrix Inc A Delaware Corp METHOD FOR DETECTING GENE POLYMORPHISMS AND ALLELE EXPRESSION USING PROBE CHIPS
US6406857B1 (en) 1997-06-16 2002-06-18 Exact Sciences Corporation Methods for stool sample preparation
US6268136B1 (en) 1997-06-16 2001-07-31 Exact Science Corporation Methods for stool sample preparation
AUPO926597A0 (en) * 1997-09-17 1997-10-09 University Of Melbourne, The Improved detection method for premature termination mutations
US20020064792A1 (en) * 1997-11-13 2002-05-30 Lincoln Stephen E. Database for storage and analysis of full-length sequences
EP1073765A2 (en) * 1998-04-27 2001-02-07 University Health Network Gene screening methods and related assays
WO2000018958A2 (en) * 1998-09-29 2000-04-06 Government Of The Republic Of Singapore An in vitro activity assay for human hepatits b virus (hbv) dna polymerase, the use of such an assay to assay activity of various serum samples and to screen for inhibitors of the hbv dna polymerase and a method of producing hbv dna polymerase
FR2786787B1 (en) * 1998-12-08 2002-04-19 Proteus METHOD OF IN VITRO ANALYSIS OF A KNOWN PHENOTYPE FROM A SAMPLE OF NUCLEIC ACIDS
US6503718B2 (en) 1999-01-10 2003-01-07 Exact Sciences Corporation Methods for detecting mutations using primer extension for detecting disease
US6280947B1 (en) 1999-08-11 2001-08-28 Exact Sciences Corporation Methods for detecting nucleotide insertion or deletion using primer extension
US7148016B1 (en) * 1999-01-14 2006-12-12 Ca*Tx Inc. Immunoassays to detect diseases or disease susceptibility traits
AU752817B2 (en) 1999-02-25 2002-10-03 Exact Sciences Corporation Methods for preserving DNA integrity
US7037682B2 (en) 1999-03-13 2006-05-02 Government Of The Republic Of Singapore In vitro activity assay for human hepatitis B virus (HBV) DNA polymerase, and its use for screening for inhibitors of HBV DNA polymerase
JP4794052B2 (en) * 1999-04-09 2011-10-12 ジェンザイム・コーポレーション Method for detecting a nucleic acid that is an indicator of cancer
WO2000075161A2 (en) 1999-06-04 2000-12-14 Massachusetts Institute Of Technology Compositions and methods for the screening of compounds to enhance or reduce apoptosis
US6306628B1 (en) 1999-08-25 2001-10-23 Ambergen, Incorporated Methods for the detection, analysis and isolation of Nascent proteins
US6586177B1 (en) * 1999-09-08 2003-07-01 Exact Sciences Corporation Methods for disease detection
US6849403B1 (en) 1999-09-08 2005-02-01 Exact Sciences Corporation Apparatus and method for drug screening
US6919174B1 (en) * 1999-12-07 2005-07-19 Exact Sciences Corporation Methods for disease detection
CA2394921A1 (en) * 1999-12-07 2001-06-14 Anthony P. Shuber Supracolonic aerodigestive neoplasm detection
US6271257B1 (en) * 2000-04-17 2001-08-07 Hormos Nutraceutical Oy Ltd. Decreasing the intracellular level of β-catenin by administering hydroxymatairesinol
EP1160332A1 (en) * 2000-05-30 2001-12-05 Amsterdam Support Diagnostics B.V. Methods for detecting enzymatic activity or detecting resistance to enzyme inhibitors
US20030165940A1 (en) * 2001-12-06 2003-09-04 The Johns Hopkins University Disease detection by digital protein truncation assays
AU2003213107A1 (en) 2002-02-15 2003-09-09 Exact Sciences Corporation Methods for analysis of molecular events
JP2006502747A (en) * 2002-10-16 2006-01-26 ジェン−プロウブ インコーポレイテッド Compositions and methods for detecting West Nile virus
US7927840B2 (en) * 2006-09-11 2011-04-19 Gen Probe Incorporated Method for detecting West Nile Virus nucleic acids in the 3′ non-coding region
US20040259101A1 (en) * 2003-06-20 2004-12-23 Shuber Anthony P. Methods for disease screening
US20080241827A1 (en) * 2004-05-10 2008-10-02 Exact Sciences Corporation Methods For Detecting A Mutant Nucleic Acid
WO2005113769A1 (en) * 2004-05-14 2005-12-01 Exact Sciences Corporation Method for stabilizing biological samples for nucleic acid analysis
WO2006026654A2 (en) * 2004-08-27 2006-03-09 Exact Sciences Corporation Method for detecting a recombinant event
WO2006047787A2 (en) 2004-10-27 2006-05-04 Exact Sciences Corporation Method for monitoring disease progression or recurrence
US20100233679A1 (en) * 2005-03-24 2010-09-16 Baochuan Guo Detection of truncation mutations in a large background of normal dna
US9777314B2 (en) * 2005-04-21 2017-10-03 Esoterix Genetic Laboratories, Llc Analysis of heterogeneous nucleic acid samples
CN115216531A (en) * 2022-06-30 2022-10-21 湖南家辉生物技术有限公司 Novel APC gene mutation c.794_795insG and diagnostic reagent thereof

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4800159A (en) * 1986-02-07 1989-01-24 Cetus Corporation Process for amplifying, detecting, and/or cloning nucleic acid sequences
EP0358737A4 (en) * 1988-01-28 1992-04-08 Mayo Foundation For Medical Education And Research Genomic amplification with direct sequencing
CA2073186C (en) * 1990-01-04 2002-06-11 Bert Vogelstein Gene deleted in colorectal cancer in humans
AU1322692A (en) * 1990-11-05 1992-05-26 United States Of America, As Represented By The Secretary Of The Army, The Method for the in vitro production of protein from a dna sequence without cloning
US5352775A (en) * 1991-01-16 1994-10-04 The Johns Hopkins Univ. APC gene and nucleic acid probes derived therefrom
WO1993011266A1 (en) * 1991-12-05 1993-06-10 Sloan-Kettering Institute For Cancer Research Method for the detection of mutations and monoclonal lineages by analysis of rna conformation polymorphism(s)

Also Published As

Publication number Publication date
JPH09506775A (en) 1997-07-08
WO1995017523A3 (en) 1995-09-28
EP0734456B1 (en) 2003-03-05
DE69432225D1 (en) 2003-04-10
WO1995017523A2 (en) 1995-06-29
US5760207A (en) 1998-06-02
EP0734456A1 (en) 1996-10-02
CA2179012C (en) 2006-10-31
DE69432225T2 (en) 2004-02-05
US5709998A (en) 1998-01-20
ATE233824T1 (en) 2003-03-15

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Effective date: 20141215