DK2937422T3 - Fremgangsmåde og et kit til ikke-invasiv detektering af patogene genmutationer for fosterdøvhed - Google Patents

Fremgangsmåde og et kit til ikke-invasiv detektering af patogene genmutationer for fosterdøvhed Download PDF

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Publication number
DK2937422T3
DK2937422T3 DK15164907.6T DK15164907T DK2937422T3 DK 2937422 T3 DK2937422 T3 DK 2937422T3 DK 15164907 T DK15164907 T DK 15164907T DK 2937422 T3 DK2937422 T3 DK 2937422T3
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pathogenes
kit
procedure
invasive detection
invasive
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DK15164907.6T
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English (en)
Inventor
Yiqian Liu
Xianchao Guo
Yong Fu
Yugang Hu
Tiancheng Li
Jianguang Zhang
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Berry Genomics Co Ltd
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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/16Primer sets for multiplex assays

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
DK15164907.6T 2014-04-23 2015-04-23 Fremgangsmåde og et kit til ikke-invasiv detektering af patogene genmutationer for fosterdøvhed DK2937422T3 (da)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
CN201410174277.6A CN105087756A (zh) 2014-04-23 2014-04-23 一种无创检测胎儿耳聋致病基因突变的方法及试剂盒

Publications (1)

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DK2937422T3 true DK2937422T3 (da) 2020-03-16

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Family Applications (1)

Application Number Title Priority Date Filing Date
DK15164907.6T DK2937422T3 (da) 2014-04-23 2015-04-23 Fremgangsmåde og et kit til ikke-invasiv detektering af patogene genmutationer for fosterdøvhed

Country Status (9)

Country Link
US (1) US20150307942A1 (da)
EP (1) EP2937422B1 (da)
CN (1) CN105087756A (da)
DK (1) DK2937422T3 (da)
ES (1) ES2775601T3 (da)
HU (1) HUE049560T2 (da)
PL (1) PL2937422T3 (da)
PT (1) PT2937422T (da)
RS (1) RS60194B1 (da)

Families Citing this family (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10227587B2 (en) 2012-01-10 2019-03-12 Berry Genomics Co., Ltd. Method for constructing a plasma DNA sequencing library
CN108103180B (zh) * 2016-11-24 2021-07-30 浙江安诺优达生物科技有限公司 可用于无创产前单基因病检测的dna文库的构建方法
CN106544341A (zh) * 2017-01-17 2017-03-29 上海亿康医学检验所有限公司 高效检测样本中的ctDNA的方法
CN109097457A (zh) * 2017-06-20 2018-12-28 深圳华大智造科技有限公司 确定核酸样本中预定位点突变类型的方法
CN108949951B (zh) * 2018-05-18 2022-01-28 中国人民解放军陆军军医大学第一附属医院 一种同时无创检测gjb2和slc26a4基因突变的方法和试剂盒
CN108841946B (zh) * 2018-05-18 2022-03-22 中国人民解放军陆军军医大学第一附属医院 一种无创检测gjb2基因突变的方法,试剂盒及其制备方法
CN108753934B (zh) * 2018-05-18 2022-01-28 中国人民解放军陆军军医大学第一附属医院 一种检测基因突变的方法、试剂盒及其制备方法
CN108642173B (zh) * 2018-05-18 2022-03-22 中国人民解放军陆军军医大学第一附属医院 一种无创检测slc26a4基因突变的方法和试剂盒
CN109371120A (zh) * 2018-11-30 2019-02-22 广东腾飞基因科技股份有限公司 一种用于检测遗传性耳聋的试剂盒
WO2020113577A1 (zh) * 2018-12-07 2020-06-11 深圳华大生命科学研究院 一种靶基因文库的构建方法、检测装置及其应用
CN109825577A (zh) * 2019-04-12 2019-05-31 中国人民解放军第四军医大学 一种感音神经性耳聋致病基因gjb2突变检测试剂盒
CN110878343B (zh) * 2019-12-03 2023-04-07 国家卫生健康委科学技术研究所 一种用于遗传性耳聋致病基因SLC26A4突变快速检测的Cpf1试剂盒及其检测方法
CN111073977A (zh) * 2020-01-19 2020-04-28 中国人民解放军第四军医大学 前庭导水管扩大/Pendred综合征致病基因SLC26A4的突变检测试剂盒
CN112126677B (zh) * 2020-11-25 2021-02-19 北京迈基诺基因科技股份有限公司 耳聋单倍型基因突变无创检测方法
CN113073135B (zh) * 2021-03-30 2024-02-23 人和未来生物科技(长沙)有限公司 一种检测耳聋基因的参考品及其制备方法与应用
CN113106152A (zh) * 2021-04-07 2021-07-13 北京尔惠基因科技有限公司 一种快速简便耳聋基因检测方法及试剂盒
CN114540479A (zh) * 2021-12-30 2022-05-27 郑州中科生物医学工程技术研究院 用于检测与耳聋相关的基因snp的组合物、试剂盒及检测方法
CN114317712A (zh) * 2021-12-30 2022-04-12 苏州贝康医疗器械有限公司 用于胚胎植入前线粒体基因检测的试剂盒、建库方法和测序方法
CN116200483B (zh) * 2022-03-23 2025-02-07 苏州淦江生物技术有限公司 耳聋遗传基因突变检测试剂盒、试剂组合、探针以及检测基因突变的方法
CN115851905B (zh) * 2022-09-29 2024-08-20 广州金域医学检验中心有限公司 检测耳聋相关基因108个多态性位点突变的引物组及方法
CN116656804B (zh) * 2023-05-24 2023-12-22 北京阅微基因技术股份有限公司 遗传性耳聋基因分型试剂盒

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EP3260556B1 (en) * 2006-05-31 2019-07-31 Sequenom, Inc. Methods for the extraction of nucleic acid from a sample
WO2011161549A2 (en) * 2010-06-24 2011-12-29 Population Genetics Technologies Ltd. Methods and compositions for polynucleotide library production, immortalization and region of interest extraction
SG10201605049QA (en) * 2011-05-20 2016-07-28 Fluidigm Corp Nucleic acid encoding reactions
CN102409089B (zh) * 2011-10-08 2017-04-19 深圳华大基因股份有限公司 检测dna样品中预定位点的突变的试剂盒、方法及应用
CN102534031B (zh) * 2012-02-14 2014-01-29 北京科聆金仪生物技术有限公司 一种高特异性聋病易感基因检测试剂盒及其应用
CN107739754A (zh) * 2012-07-11 2018-02-27 北京贝瑞和康生物技术有限公司 片断dna检测方法、片断dna检测试剂盒及其应用
CN103276065A (zh) * 2013-05-15 2013-09-04 向华 用于检测与遗传性耳聋相关的基因snp的引物系统及其用途
CN103436609A (zh) * 2013-08-13 2013-12-11 康盈创新生物技术(北京)有限公司 一种无创产前诊断先天性耳聋遗传病的方法

Also Published As

Publication number Publication date
PL2937422T3 (pl) 2020-09-21
HUE049560T2 (hu) 2020-09-28
EP2937422B1 (en) 2019-12-18
ES2775601T3 (es) 2020-07-27
CN105087756A (zh) 2015-11-25
US20150307942A1 (en) 2015-10-29
PT2937422T (pt) 2020-03-25
EP2937422A1 (en) 2015-10-28
RS60194B1 (sr) 2020-06-30

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