JP2020512000A - 胎児の染色体異常を検出する方法 - Google Patents

胎児の染色体異常を検出する方法 Download PDF

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JP2020512000A
JP2020512000A JP2019553832A JP2019553832A JP2020512000A JP 2020512000 A JP2020512000 A JP 2020512000A JP 2019553832 A JP2019553832 A JP 2019553832A JP 2019553832 A JP2019553832 A JP 2019553832A JP 2020512000 A JP2020512000 A JP 2020512000A
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chromosome
size
fetal
fragment
target
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JP2020512000A5 (enExample
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クレア フランセスコ
クレア フランセスコ
フォーマン マシュー
フォーマン マシュー
リスレイ マイケル
リスレイ マイケル
シェルメルディン レイチェル
シェルメルディン レイチェル
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Premaitha Ltd
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Premaitha Ltd
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Priority claimed from GBGB1705281.2A external-priority patent/GB201705281D0/en
Priority claimed from GBGB1718623.0A external-priority patent/GB201718623D0/en
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Publication of JP2020512000A publication Critical patent/JP2020512000A/ja
Publication of JP2020512000A5 publication Critical patent/JP2020512000A5/ja
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    • 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
    • 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
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034—Isolating an individual clone by screening libraries
    • 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
    • C12Q1/6879—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for sex determination
    • 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
    • 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

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
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  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
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  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Pathology (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Plant Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2019553832A 2017-03-31 2018-03-29 胎児の染色体異常を検出する方法 Pending JP2020512000A (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
GBGB1705281.2A GB201705281D0 (en) 2017-03-31 2017-03-31 Method of detecting a fetal chromosomal abnormality
GB1705281.2 2017-03-31
GBGB1718623.0A GB201718623D0 (en) 2017-11-10 2017-11-10 Method of detecting a fetal chromosomal abnormality
GB1718623.0 2017-11-10
PCT/GB2018/050855 WO2018178700A1 (en) 2017-03-31 2018-03-29 Method of detecting a fetal chromosomal abnormality

Publications (2)

Publication Number Publication Date
JP2020512000A true JP2020512000A (ja) 2020-04-23
JP2020512000A5 JP2020512000A5 (enExample) 2021-05-06

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JP2019553832A Pending JP2020512000A (ja) 2017-03-31 2018-03-29 胎児の染色体異常を検出する方法

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US (1) US20200109452A1 (enExample)
EP (1) EP3601591A1 (enExample)
JP (1) JP2020512000A (enExample)
CN (1) CN110914456A (enExample)
AU (1) AU2018244815A1 (enExample)
CA (1) CA3058551A1 (enExample)
WO (1) WO2018178700A1 (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2024505780A (ja) * 2020-11-27 2024-02-08 ビージーアイ シェンチェン 胎児染色体異常を検出する方法およびシステム

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3123847A1 (en) * 2018-12-17 2020-06-25 Natera, Inc. Methods for analysis of circulating cells
KR102532991B1 (ko) * 2019-12-23 2023-05-18 주식회사 랩 지노믹스 태아의 염색체 이수성 검출방법
CN112037174B (zh) * 2020-08-05 2024-03-01 湖南自兴智慧医疗科技有限公司 染色体异常检测方法、装置、设备及计算机可读存储介质
CN120814002A (zh) * 2022-08-30 2025-10-17 总医院公司 高分辨率和非侵入性胎儿测序
CN115798578B (zh) * 2022-12-06 2024-06-18 中国人民解放军军事科学院军事医学研究院 一种分析与检测病毒新流行变异株的装置及方法
PL445283A1 (pl) * 2023-06-20 2024-12-23 Instytut Centrum Zdrowia Matki Polki Sposób nieinwazyjnej analizy płodowego DNA oraz frakcji płodu z wykorzystaniem reakcji multipleks digital PCR

Citations (5)

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JP2013509870A (ja) * 2009-11-06 2013-03-21 ザ チャイニーズ ユニバーシティ オブ ホンコン サイズに基づくゲノム分析
JP2014530024A (ja) * 2011-10-18 2014-11-17 マルチプリコム・ナムローゼ・フエンノートシャップＭｕｌｔｉｐｌｉｃｏｍ Ｎｖ 胎児の染色体異数性の診断
JP2015526101A (ja) * 2012-08-30 2015-09-10 プレマイサ リミテッド 染色体異常を検出する方法
EP3018213A1 (en) * 2014-11-04 2016-05-11 Genesupport SA Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
WO2016094853A1 (en) * 2014-12-12 2016-06-16 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations

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US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
KR101489568B1 (ko) * 2011-06-29 2015-02-03 비지아이 헬스 서비스 코포레이션 리미티드 태아 유전학적 이상의 비침습성 검출
CN103923987A (zh) * 2014-04-01 2014-07-16 中山大学达安基因股份有限公司 一种基于高通量测序检测13、18、21三体综合征的方法
WO2016011982A1 (zh) * 2014-07-25 2016-01-28 深圳华大基因股份有限公司 确定生物样本中游离核酸比例的方法、装置及其用途
CN104232778B (zh) * 2014-09-19 2016-08-17 天津华大基因科技有限公司 同时确定胎儿单体型及染色体非整倍性的方法及装置
CN105695567B (zh) * 2015-11-30 2019-04-05 北京昱晟达医疗科技有限公司 一种用于检测胎儿染色体非整倍体的试剂盒、引物和探针序列及检测方法
CN105926043B (zh) * 2016-04-19 2018-08-28 苏州贝康医疗器械有限公司 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法

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JP2013509870A (ja) * 2009-11-06 2013-03-21 ザ チャイニーズ ユニバーシティ オブ ホンコン サイズに基づくゲノム分析
JP2014530024A (ja) * 2011-10-18 2014-11-17 マルチプリコム・ナムローゼ・フエンノートシャップＭｕｌｔｉｐｌｉｃｏｍ Ｎｖ 胎児の染色体異数性の診断
JP2015526101A (ja) * 2012-08-30 2015-09-10 プレマイサ リミテッド 染色体異常を検出する方法
EP3018213A1 (en) * 2014-11-04 2016-05-11 Genesupport SA Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
WO2016094853A1 (en) * 2014-12-12 2016-06-16 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations

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PREGNANT DIAGNOSIS, vol. 35, no. 8, JPN7022000027, 2015, pages 810 - 815, ISSN: 0005091593 *
PROCEEDINGS OF THE NATIONAL ACADEMIY OF SCIENCES, vol. 111, no. 23, JPN7022000028, 2014, pages 8583 - 8588, ISSN: 0005091591 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2024505780A (ja) * 2020-11-27 2024-02-08 ビージーアイ シェンチェン 胎児染色体異常を検出する方法およびシステム
JP7610710B2 (ja) 2020-11-27 2025-01-08 ビージーアイ シェンチェン 胎児染色体異常を検出する方法およびシステム

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WO2018178700A1 (en) 2018-10-04
CA3058551A1 (en) 2018-10-04
CN110914456A (zh) 2020-03-24
AU2018244815A1 (en) 2019-10-31
EP3601591A1 (en) 2020-02-05
US20200109452A1 (en) 2020-04-09

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