BR112012033760A2 - detecção não invasiva de anormalidades genéticas fetais - Google Patents

detecção não invasiva de anormalidades genéticas fetais

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Publication number
BR112012033760A2
BR112012033760A2 BR112012033760A BR112012033760A BR112012033760A2 BR 112012033760 A2 BR112012033760 A2 BR 112012033760A2 BR 112012033760 A BR112012033760 A BR 112012033760A BR 112012033760 A BR112012033760 A BR 112012033760A BR 112012033760 A2 BR112012033760 A2 BR 112012033760A2
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BR
Brazil
Prior art keywords
fetal genetic
noninvasive detection
genetic abnormalities
detection
fetal
Prior art date
Application number
BR112012033760A
Other languages
English (en)
Other versions
BR112012033760B1 (pt
Inventor
Chen Fang
Jiang Fuman
Chen Huifei
Chai Xianghua
Zhang Xiuqing
Yuan Yunying
Original Assignee
Bgi Health Service Co 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.)
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Publication date
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First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=47392194&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=BR112012033760(A2) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Bgi Health Service Co Ltd filed Critical Bgi Health Service Co Ltd
Publication of BR112012033760A2 publication Critical patent/BR112012033760A2/pt
Publication of BR112012033760B1 publication Critical patent/BR112012033760B1/pt

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    • 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
    • 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
    • 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
    • G16B20/10—Ploidy or copy number detection
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

detecção não invasiva de anormalidade genéticas fetais. a presente invenção é direcionada a métodos para detecção não invasiva de anormalidades genéticas fetais através de sequenciamento em larga escala de nucleotídeos da amostra biológica materna. métodos tabém são fornecidos para remover a tendência gc dos resultados do sequenciamento devido a diferença no conteúdo gc de um cromossoma. a presente invenção não somente realizada a detecção com mais precisão, como também representa um método para detecção de aneuplodia fetal incluindo distúrbios dos cromosomas sexuais, tais como x0, xxx,xxy e xyy, etc.
BR112012033760-2A 2011-06-29 2011-06-29 detecção não invasiva de anormalidades genéticas fetais BR112012033760B1 (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2011/001070 WO2013000100A1 (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Publications (2)

Publication Number Publication Date
BR112012033760A2 true BR112012033760A2 (pt) 2018-02-27
BR112012033760B1 BR112012033760B1 (pt) 2020-11-17

Family

ID=47392194

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112012033760-2A BR112012033760B1 (pt) 2011-06-29 2011-06-29 detecção não invasiva de anormalidades genéticas fetais

Country Status (18)

Country Link
US (1) US9547748B2 (pt)
EP (1) EP2561103B1 (pt)
JP (1) JP5659319B2 (pt)
KR (1) KR101489568B1 (pt)
CN (1) CN103403183B (pt)
AU (1) AU2012261664B2 (pt)
BR (1) BR112012033760B1 (pt)
CA (2) CA2791118C (pt)
DK (1) DK2561103T3 (pt)
ES (1) ES2512448T3 (pt)
HK (1) HK1190758A1 (pt)
MY (1) MY172864A (pt)
PL (1) PL2561103T3 (pt)
RU (1) RU2589681C2 (pt)
SG (1) SG191757A1 (pt)
SI (1) SI2561103T1 (pt)
WO (1) WO2013000100A1 (pt)
ZA (1) ZA201209583B (pt)

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CA2948939C (en) 2021-02-02
CA2791118A1 (en) 2012-12-29
US20140099642A1 (en) 2014-04-10
CA2791118C (en) 2019-05-07
KR20140023847A (ko) 2014-02-27
BR112012033760B1 (pt) 2020-11-17
CA2948939A1 (en) 2012-12-29
ZA201209583B (en) 2014-01-29
DK2561103T3 (da) 2014-10-20
CN103403183B (zh) 2014-10-15
SG191757A1 (en) 2013-08-30
JP2014520509A (ja) 2014-08-25
EP2561103A1 (en) 2013-02-27
MY172864A (en) 2019-12-13
PL2561103T3 (pl) 2015-02-27
WO2013000100A1 (en) 2013-01-03
ES2512448T3 (es) 2014-10-24
JP5659319B2 (ja) 2015-01-28
SI2561103T1 (sl) 2014-11-28
EP2561103A4 (en) 2013-08-07
HK1190758A1 (en) 2014-07-11
AU2012261664A1 (en) 2013-01-17
CN103403183A (zh) 2013-11-20
RU2012158107A (ru) 2015-08-10
EP2561103B1 (en) 2014-08-27
KR101489568B1 (ko) 2015-02-03
US9547748B2 (en) 2017-01-17
AU2012261664B2 (en) 2014-07-03
RU2589681C2 (ru) 2016-07-10

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