WO2007095032A3 - Mutations and polymorphisms of ptk2b - Google Patents

Mutations and polymorphisms of ptk2b Download PDF

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Publication number
WO2007095032A3
WO2007095032A3 PCT/US2007/003280 US2007003280W WO2007095032A3 WO 2007095032 A3 WO2007095032 A3 WO 2007095032A3 US 2007003280 W US2007003280 W US 2007003280W WO 2007095032 A3 WO2007095032 A3 WO 2007095032A3
Authority
WO
WIPO (PCT)
Prior art keywords
ptk2b
mutations
mutant
polymorphisms
various aspects
Prior art date
Application number
PCT/US2007/003280
Other languages
French (fr)
Other versions
WO2007095032A2 (en
Inventor
Kenneth Wayne Culver
Jian Zhu
Stan Lilleberg
Original Assignee
Novartis Ag
Novartis Pharma Gmbh
Kenneth Wayne Culver
Jian Zhu
Stan Lilleberg
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 Novartis Ag, Novartis Pharma Gmbh, Kenneth Wayne Culver, Jian Zhu, Stan Lilleberg filed Critical Novartis Ag
Publication of WO2007095032A2 publication Critical patent/WO2007095032A2/en
Publication of WO2007095032A3 publication Critical patent/WO2007095032A3/en

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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
    • C12Q1/6876—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
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • C12N9/1205—Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases
    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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
    • C12Q2600/172—Haplotypes

Abstract

This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the PTK2B gene. The invention provides new PTK2B mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the PTK2B mutations of the invention, expression vectors encoding the PTK2B mutant polypeptides of the invention and organisms that express the PTK2B mutant and polymorphic polynucleotides and/or PTK2B mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the PTK2B mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.
PCT/US2007/003280 2006-02-09 2007-02-07 Mutations and polymorphisms of ptk2b WO2007095032A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US77177506P 2006-02-09 2006-02-09
US60/771,775 2006-02-09

Publications (2)

Publication Number Publication Date
WO2007095032A2 WO2007095032A2 (en) 2007-08-23
WO2007095032A3 true WO2007095032A3 (en) 2008-02-28

Family

ID=38050961

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2007/003280 WO2007095032A2 (en) 2006-02-09 2007-02-07 Mutations and polymorphisms of ptk2b

Country Status (1)

Country Link
WO (1) WO2007095032A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112695081B (en) * 2020-12-30 2022-08-26 中国医学科学院北京协和医院 New susceptibility gene of primary biliary cholangitis and application thereof

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030143606A1 (en) * 2000-06-30 2003-07-31 Alexander Olek Diagnosis of diseases associated with the immune system by determining cytosine methylation

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030143606A1 (en) * 2000-06-30 2003-07-31 Alexander Olek Diagnosis of diseases associated with the immune system by determining cytosine methylation

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
ANONYMOUS: "Kinase Variation Sequence Program", INTERNET ARTICLE, 2005, XP002448903, Retrieved from the Internet <URL:http://web.archive.org/web/20050205011923/http://agencourt.com/services/kinase> [retrieved on 20070901] *
DATABASE GENECARDS [online] 2007, "PTK2B protein tyrosine kinase 2 beta", XP002448904, Database accession no. PTK2B *
DATABASE SNP [online] 2003, "Cluster Report: rs1030526", XP002448905, Database accession no. rs1030526 *
LIU C ET AL: "SNP fine mapping of chromosome 8p21-12 reveals four potential candidate genes for schizophrenia, DPYSL2, TRIM35, PTK2B, and CHRNA2", AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS, WILEY-LISS, HOBOKEN, NJ, US, vol. 138B, no. 1, September 2005 (2005-09-01), pages 126, XP009088866, ISSN: 1552-485X *
NAYLOR TARA L ET AL: "High resolution genomic analysis of sporadic breast cancer using array-based comparative genomic hybridization", BREAST CANCER RESEARCH, CURRENT SCIENCE, LONDON, GB, vol. 7, no. 6, 24 November 2005 (2005-11-24), pages R1186 - R1198, XP021011919, ISSN: 1465-5411 *
STITZIEL NATHAN O ET AL: "A Protein Kinase Database for Genes Expressed in Human Bone Marrow: Application to Hematologic Malignancies.", BLOOD, vol. 100, no. 11, 16 November 2002 (2002-11-16), & 44TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HEMATOLOGY; PHILADELPHIA, PA, USA; DECEMBER 06-10, 2002, pages Abstract No. 2905, XP009088868, ISSN: 0006-4971 *

Also Published As

Publication number Publication date
WO2007095032A2 (en) 2007-08-23

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