WO2018121468A8 - 检测胎儿基因突变的方法、装置和试剂盒 - Google Patents

检测胎儿基因突变的方法、装置和试剂盒 Download PDF

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WO2018121468A8
WO2018121468A8 PCT/CN2017/118213 CN2017118213W WO2018121468A8 WO 2018121468 A8 WO2018121468 A8 WO 2018121468A8 CN 2017118213 W CN2017118213 W CN 2017118213W WO 2018121468 A8 WO2018121468 A8 WO 2018121468A8
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kit
genetic mutation
genotypes
mutation
fetal genetic
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PCT/CN2017/118213
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French (fr)
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WO2018121468A1 (zh
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杜洋
彭胜斌
惠峰
张晗
玄兆伶
李大为
梁峻彬
陈重建
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安诺优达基因科技(北京)有限公司
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Priority to EP17888263.5A priority Critical patent/EP3564391B1/en
Priority to US16/474,713 priority patent/US20190338350A1/en
Priority to MYPI2019003794A priority patent/MY193127A/en
Publication of WO2018121468A1 publication Critical patent/WO2018121468A1/zh
Publication of WO2018121468A8 publication Critical patent/WO2018121468A8/zh
Priority to ZA2019/04961A priority patent/ZA201904961B/en

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Abstract

提供了一种检测基因突变的方法、装置和用于对孕妇和胎儿的基因型进行分型的试剂盒。该方法包括：将孕妇外周血中的游离DNA进行高通量测序得到测序数据；将测序数据与参考基因组比对得到SNP位点，对各SNP位点进行混合基因型分型，得到各SNP位点的目标基因型分型；从目标基因型分型中胎儿的基因型中筛选出导致基因突变的突变位点。
PCT/CN2017/118213 2016-12-29 2017-12-25 检测胎儿基因突变的方法、装置和试剂盒 WO2018121468A1 (zh)

Priority Applications (4)

Application Number Priority Date Filing Date Title
EP17888263.5A EP3564391B1 (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation
US16/474,713 US20190338350A1 (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation
MYPI2019003794A MY193127A (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation
ZA2019/04961A ZA201904961B (en) 2016-12-29 2019-07-29 Method, device and kit for detecting fetal gene mutation

Applications Claiming Priority (2)

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CN201611270836.9A CN108277267B (zh) 2016-12-29 2016-12-29 检测基因突变的装置和用于对孕妇和胎儿的基因型进行分型的试剂盒
CN201611270836.9 2016-12-29

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WO2018121468A1 WO2018121468A1 (zh) 2018-07-05
WO2018121468A8 true WO2018121468A8 (zh) 2019-07-11

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US (1) US20190338350A1 (zh)
EP (1) EP3564391B1 (zh)
CN (1) CN108277267B (zh)
MY (1) MY193127A (zh)
WO (1) WO2018121468A1 (zh)
ZA (1) ZA201904961B (zh)

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CN111118112A (zh) * 2018-10-30 2020-05-08 浙江大学 一种高通量基因表达谱检测试剂盒
CN109493919B (zh) * 2018-10-31 2023-04-14 中国石油大学(华东) 基于条件概率的基因型指派方法
CN110373458B (zh) * 2019-06-27 2020-05-19 东莞博奥木华基因科技有限公司 一种地中海贫血检测的试剂盒及分析系统
CN110706745B (zh) * 2019-09-27 2022-05-17 北京市农林科学院 一种单核苷酸多态性位点整合方法及装置
CN110993025B (zh) * 2019-12-20 2023-08-22 北京科迅生物技术有限公司 胎儿浓度定量的方法和装置及胎儿基因分型的方法和装置
CN111739584B (zh) * 2020-07-01 2024-02-09 苏州贝康医疗器械有限公司 一种用于pgt-m检测的基因分型评估模型的构建方法及装置
CN112779321B (zh) * 2021-01-18 2021-10-29 生物岛实验室 用于检测gck-mody基因突变的方法及其试剂盒

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WO2008088804A1 (en) * 2007-01-17 2008-07-24 The Brigham And Women's Hospital, Inc. Genetic analyses predictive of asthma
US20130123120A1 (en) * 2010-05-18 2013-05-16 Natera, Inc. Highly Multiplex PCR Methods and Compositions
CN102329876B (zh) * 2011-10-14 2014-04-02 深圳华大基因科技有限公司 一种测定待检测样本中疾病相关核酸分子的核苷酸序列的方法
CN103114150B (zh) * 2013-03-11 2016-07-06 上海美吉生物医药科技有限公司 基于酶切建库测序与贝叶斯统计的单核苷酸多态性位点鉴定的方法
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Publication number Publication date
CN108277267B (zh) 2019-08-13
ZA201904961B (en) 2021-06-30
WO2018121468A1 (zh) 2018-07-05
MY193127A (en) 2022-09-26
EP3564391A4 (en) 2020-01-29
CN108277267A (zh) 2018-07-13
EP3564391B1 (en) 2021-11-24
US20190338350A1 (en) 2019-11-07
EP3564391A1 (en) 2019-11-06

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