CN102753703A - 胎儿染色体非整倍性的检测方法 - Google Patents

胎儿染色体非整倍性的检测方法 Download PDF

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Publication number
CN102753703A
CN102753703A CN2010800328590A CN201080032859A CN102753703A CN 102753703 A CN102753703 A CN 102753703A CN 2010800328590 A CN2010800328590 A CN 2010800328590A CN 201080032859 A CN201080032859 A CN 201080032859A CN 102753703 A CN102753703 A CN 102753703A
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chromosomoid
chromosome
base positions
bamboo strips
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CN102753703B (zh
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李英睿
李松岗
杨广霞
蒋馥蔓
张秀清
玄兆伶
陈芳
林静蓉
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Huada biological technology (Wuhan) Co., Ltd.
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BGI Shenzhen Co Ltd
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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
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • 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
    • 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

Abstract

本发明提供了胎儿染色体非整倍性的检测方法，该方法利用第一类染色体窗口的核酸分子的量的值、和与其在第二类染色体上相对应窗口的核酸分子的量的值，以及它们之间的函数关系来诊断产前胎儿染色体的非整倍性。

Description

PCT国内申请，说明书已公开。

Claims (1)

  1. PCT国内申请，权利要求书已公开。
CN201080032859.0A 2010-04-23 2010-04-23 胎儿染色体非整倍性的检测方法 Active CN102753703B (zh)

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CN201410416250.3A CN104178572B (zh) 2010-04-23 2010-04-23 测序数据的处理方法及装置

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PCT/CN2010/000568 WO2011130880A1 (zh) 2010-04-23 2010-04-23 胎儿染色体非整倍性的检测方法

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Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015006932A1 (zh) * 2013-07-17 2015-01-22 深圳华大基因科技有限公司 一种染色体非整倍性检测方法及装置
WO2015089726A1 (zh) * 2013-12-17 2015-06-25 深圳华大基因科技有限公司 一种染色体非整倍性检测方法及装置
CN109243536A (zh) * 2012-12-19 2019-01-18 阿瑞奥萨诊断公司 卵子供体妊娠中胎儿非整倍性的无创检测
WO2021026828A1 (zh) * 2019-08-14 2021-02-18 深圳华大基因股份有限公司 确定孕妇血液中胎儿核酸浓度的方法及设备

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN104156631B (zh) * 2014-07-14 2017-07-18 天津华大基因科技有限公司 染色体三倍体检验方法
CN104789686B (zh) * 2015-05-06 2018-09-07 浙江安诺优达生物科技有限公司 检测染色体非整倍性的试剂盒和装置
CN104789466B (zh) * 2015-05-06 2018-03-13 安诺优达基因科技(北京)有限公司 检测染色体非整倍性的试剂盒和装置
CN105316420A (zh) * 2015-12-01 2016-02-10 钦州市妇幼保健院 一种单管四色双重相对荧光定量pcr技术快速检测人13号和18号染色体数目的试剂盒
AU2019480813A1 (en) * 2019-12-31 2021-12-16 Bgi Clinical Laboratories (Shenzhen) Co., Ltd. Methods for determining chromosome aneuploidy and constructing classification model, and device

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN1930303A (zh) * 2003-10-08 2007-03-14 波士顿大学信托人 染色体异常的产前诊断方法
CN101137760A (zh) * 2005-03-18 2008-03-05 香港中文大学 检测染色体非整倍性的方法
WO2009013496A1 (en) * 2007-07-23 2009-01-29 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
WO2010033578A2 (en) * 2008-09-20 2010-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN1930303A (zh) * 2003-10-08 2007-03-14 波士顿大学信托人 染色体异常的产前诊断方法
CN101137760A (zh) * 2005-03-18 2008-03-05 香港中文大学 检测染色体非整倍性的方法
WO2009013496A1 (en) * 2007-07-23 2009-01-29 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
WO2010033578A2 (en) * 2008-09-20 2010-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
Y. M. DENNIS LO等: "Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis", 《CLINICAL CHEMISTRY》 *

Cited By (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN109243536A (zh) * 2012-12-19 2019-01-18 阿瑞奥萨诊断公司 卵子供体妊娠中胎儿非整倍性的无创检测
CN109243536B (zh) * 2012-12-19 2021-12-10 豪夫迈·罗氏有限公司 卵子供体妊娠中胎儿非整倍性的无创检测
WO2015006932A1 (zh) * 2013-07-17 2015-01-22 深圳华大基因科技有限公司 一种染色体非整倍性检测方法及装置
CN104520437A (zh) * 2013-07-17 2015-04-15 深圳华大基因科技有限公司 一种染色体非整倍性检测方法及装置
CN104520437B (zh) * 2013-07-17 2016-09-14 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
WO2015089726A1 (zh) * 2013-12-17 2015-06-25 深圳华大基因科技有限公司 一种染色体非整倍性检测方法及装置
CN105765076A (zh) * 2013-12-17 2016-07-13 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
CN105765076B (zh) * 2013-12-17 2019-07-19 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
WO2021026828A1 (zh) * 2019-08-14 2021-02-18 深圳华大基因股份有限公司 确定孕妇血液中胎儿核酸浓度的方法及设备

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CN102753703B (zh) 2014-12-24

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