EP1694695A1 - Vollständige mitochondriale genomsequenzen als diagnostisches tool für die medizinischen wissenschaften - Google Patents

Vollständige mitochondriale genomsequenzen als diagnostisches tool für die medizinischen wissenschaften

Info

Publication number
EP1694695A1
EP1694695A1 EP04802299A EP04802299A EP1694695A1 EP 1694695 A1 EP1694695 A1 EP 1694695A1 EP 04802299 A EP04802299 A EP 04802299A EP 04802299 A EP04802299 A EP 04802299A EP 1694695 A1 EP1694695 A1 EP 1694695A1
Authority
EP
European Patent Office
Prior art keywords
disease
mutations
mtdna
disorder
biological sample
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.)
Withdrawn
Application number
EP04802299A
Other languages
English (en)
French (fr)
Other versions
EP1694695A4 (de
Inventor
Mark Birch-Machin
Gabriel D. Dakubo
Robert Thayer
Ryan Parr
Alioune Ngom
John NW Ontario Regional Cancer Centre TH'NG
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.)
Genesis Genomics Inc
Original Assignee
1304854 Ontario Ltd
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
Priority claimed from US10/732,374 external-priority patent/US20050026167A1/en
Application filed by 1304854 Ontario Ltd filed Critical 1304854 Ontario Ltd
Publication of EP1694695A1 publication Critical patent/EP1694695A1/de
Publication of EP1694695A4 publication Critical patent/EP1694695A4/de
Withdrawn legal-status Critical Current

Links

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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/40—Population genetics; Linkage disequilibrium
    • 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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • C12Q2600/112—Disease subtyping, staging or classification
    • 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
    • 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
    • C12Q2600/158—Expression markers

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Physiology (AREA)
  • Ecology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
EP04802299A 2003-12-11 2004-12-13 Vollständige mitochondriale genomsequenzen als diagnostisches tool für die medizinischen wissenschaften Withdrawn EP1694695A4 (de)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US10/732,374 US20050026167A1 (en) 2001-06-11 2003-12-11 Complete mitochondrial genome sequences as a diagnostic tool for the health sciences
PCT/CA2004/002124 WO2005056573A1 (en) 2002-06-10 2004-12-13 Complete mitochondrial genome sequences as a diagnostic tool for the health sciences

Publications (2)

Publication Number Publication Date
EP1694695A1 true EP1694695A1 (de) 2006-08-30
EP1694695A4 EP1694695A4 (de) 2007-10-31

Family

ID=36693286

Family Applications (1)

Application Number Title Priority Date Filing Date
EP04802299A Withdrawn EP1694695A4 (de) 2003-12-11 2004-12-13 Vollständige mitochondriale genomsequenzen als diagnostisches tool für die medizinischen wissenschaften

Country Status (3)

Country Link
EP (1) EP1694695A4 (de)
CA (1) CA2550135A1 (de)
WO (1) WO2005056573A1 (de)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR100892253B1 (ko) * 2006-09-07 2009-04-10 (주)지노첵 인간 미토콘드리아 ｄｎａ의 변이 판별 방법과 변이 판별용폴리뉴클레오티드 프로브, ｄｎａ 칩 및 키트
AU2008324675B2 (en) * 2007-11-09 2015-04-23 Mdna Life Sciences Inc. Mitochondrial DNA deletion between about residues 12317-16254 for use in the detection of cancer
US20210246503A1 (en) * 2018-06-11 2021-08-12 The Broad Institute, Inc. Lineage tracing using mitochondrial genome mutations and single cell genomics
CN114350778A (zh) * 2021-12-14 2022-04-15 迈基诺（重庆）基因科技有限责任公司 用于检测线粒体环基因突变的引物对、试剂盒及检测方法

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003078661A1 (en) * 2002-03-15 2003-09-25 Ulf Gyllensten Method and kit for detection of mutations in mitochondrial dna

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6027883A (en) * 1994-03-30 2000-02-22 Mitokor Optimal procedure for isolation of mutant mitochondrial alleles
JP3251219B2 (ja) * 1997-10-13 2002-01-28 雅嗣 田中 ヒトミトコンドリアｄｎａを用いた遺伝子検出方法
JP2002523061A (ja) * 1998-08-20 2002-07-30 ザ ジョンズ ホプキンス ユニバーシティ 腫瘍マーカーとしての微細なミトコンドリア突然変異
AU4368300A (en) * 1999-04-20 2000-11-02 Mitokor Single nucleotide polymorphisms in mitochondrial genes that segregate with alzheimer's disease
SE0003286D0 (sv) * 2000-09-15 2000-09-15 Ulf Gyllensten Method and kit for human identification
US20030162174A1 (en) * 2001-06-11 2003-08-28 Sutherland John W. Detecting nucleic acid deletion sequences
CA2450403A1 (en) * 2001-06-11 2002-12-19 1304854 Ontario Ltd. Complete mitochondrial genome sequences as a diagnostic tool for the health sciences

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003078661A1 (en) * 2002-03-15 2003-09-25 Ulf Gyllensten Method and kit for detection of mutations in mitochondrial dna

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
BANDELT HANS-JÜRGEN ET AL: "What is a 'novel' mtDNA mutation--and does 'novelty' really matter?" JOURNAL OF HUMAN GENETICS 2006, vol. 51, no. 12, 2006, pages 1073-1082, XP002450142 ISSN: 1434-5161 *
DURHAM S E ET AL: "Mitochondrial DNA damage in non-melanoma skin cancer." BRITISH JOURNAL OF CANCER 13 JAN 2003, vol. 88, no. 1, 13 January 2003 (2003-01-13), pages 90-95, XP002450141 ISSN: 0007-0920 *
KOGELNIK ANDREAS M ET AL: "MITOMAP: a human mitochondrial genome database-1998 update" NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 26, no. 1, 1998, pages 112-115, XP002966479 ISSN: 0305-1048 *
See also references of WO2005056573A1 *

Also Published As

Publication number Publication date
EP1694695A4 (de) 2007-10-31
WO2005056573A1 (en) 2005-06-23
CA2550135A1 (en) 2005-06-23

Similar Documents

Publication Publication Date Title
US10907213B2 (en) Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers
US20070190534A1 (en) Mitochondrial sites and genes associated with prostate cancer
JP2007504827A (ja) １３ｑ１４染色体変化の検出
JP2007502113A (ja) エピジェネティク・マーカーを使用して組織または細胞タイプを鑑別するための方法および組成物
US20050026167A1 (en) Complete mitochondrial genome sequences as a diagnostic tool for the health sciences
WO2002101086A2 (en) Complete mitochondrial genome sequences as a diagnostic tool for the health sciences
Yeung et al. Impact of copy neutral loss of heterozygosity and total genome aberrations on survival in myelodysplastic syndrome
EP1694695A1 (de) Vollständige mitochondriale genomsequenzen als diagnostisches tool für die medizinischen wissenschaften
Huijsmans et al. Single nucleotide polymorphism profiling assay to confirm the identity of human tissues
AU2011242123B2 (en) Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers
AU2002312671A1 (en) Complete mitochondrial genome sequences as a diagnostic tool for the health sciences
Stankov et al. Cloning of the genes for non-medullary thyroid cancer: Methods and advances

Legal Events

Date Code Title Description
PUAI Public reference made under article 153(3) epc to a published international application that has entered the european phase

Free format text: ORIGINAL CODE: 0009012

17P Request for examination filed

Effective date: 20060630

AK Designated contracting states

Kind code of ref document: A1

Designated state(s): AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IS IT LI LT LU MC NL PL PT RO SE SI SK TR

RIN1 Information on inventor provided before grant (corrected)

Inventor name: TH'NG, JOHN, THUNDER BAY REGNL. HTH SCS. CENTRE,

Inventor name: NGOM, ALIOUNE

Inventor name: PARR, RYAN

Inventor name: THAYER, ROBERT

Inventor name: DAKUBO, GABRIEL D.

Inventor name: BIRCH-MACHIN, MARK

DAX Request for extension of the european patent (deleted)
A4 Supplementary search report drawn up and despatched

Effective date: 20071001

RIN1 Information on inventor provided before grant (corrected)

Inventor name: TH'NG, JOHN, THUNDER BAY REGIONAL HEALTH SCIENCES

Inventor name: NGOM, ALIOUNE

Inventor name: PARR, RYAN

Inventor name: THAYER, ROBERT

Inventor name: DAKUBO, GABRIEL D.

Inventor name: BIRCH-MACHIN, MARK

17Q First examination report despatched

Effective date: 20080222

RAP1 Party data changed (applicant data changed or rights of an application transferred)

Owner name: GENESIS GENOMICS INC.

STAA Information on the status of an ep patent application or granted ep patent

Free format text: STATUS: THE APPLICATION IS DEEMED TO BE WITHDRAWN

18D Application deemed to be withdrawn

Effective date: 20080904