CN104232777B - 同时确定胎儿核酸含量和染色体非整倍性的方法及装置 - Google Patents
同时确定胎儿核酸含量和染色体非整倍性的方法及装置 Download PDFInfo
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- CN104232777B CN104232777B CN201410484128.XA CN201410484128A CN104232777B CN 104232777 B CN104232777 B CN 104232777B CN 201410484128 A CN201410484128 A CN 201410484128A CN 104232777 B CN104232777 B CN 104232777B
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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
- C12Q1/6869—Methods for sequencing
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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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
Abstract
Description
序号 | 疾病 | 基因 |
1 | 地中海贫血(α、β) | HBA1、HBA2、HBB |
2 | 镰形细胞贫血症 | HBB |
3 | 遗传性耳聋 | GJB2、SLC26A4 |
4 | 脊肌萎缩症 | SMN1 |
5 | 进行性肌营养不良 | DMD |
6 | 半乳糖血症 | GALT |
7 | 苯丙酮尿症 | PAH |
8 | 血友病(甲型、乙型) | F8、F9 |
9 | 肝豆状核变性 | ATP7B |
10 | 糖原累积病(2型) | GAA |
11 | 隐性多囊肾 | PKHD1 |
类型 | 染色体(Chr) | 起始位置(start) | 终止位置(end) |
Beta地贫 | |||
Gγ+(Aγδβ)0 | 11 | 5191148 | 5270051 |
(SEA)-HPFH | 11 | 5222878 | 5250288 |
YunnaneseGγ(Aγδβ)0 | 11 | 5180696 | 5271217 |
Cantonese Gγ(Aγδβ)0 | 11 | 5240000 | 5271087 |
Cantonese Gγ(Aγδβ)0 | 11 | 5246696 | 5271087 |
Taiwanese | 11 | 5247493 | 5248849 |
Lepore-Boston-Washington | 11 | 5247800 | 5255214 |
alpha地贫 | |||
__THAI | 16 | 199800 | 233300 |
FIL | 16 | 200820 | 232670 |
SEA | 16 | 215400 | 234700 |
α4.2 | 16 | 219,498~219,817 | 223,755~224,074 |
α3.7 | 16 | 223300 | 227103 |
类型 | 染色体(Chr) | 起始位置(start) | 终止位置(end) |
CH-1 | chr6 | 32006910 | 32007203 |
CH-2 | chr6 | 32007325 | 32007574 |
CH-3 | chr6 | 32008198 | 32008312 |
CH-5 | chr6 | 32007966 | 32008198 |
CH-6 | chr6 | 32006858 | 32006910 |
CH-7 | chr6 | 32007593 | 32007966 |
CH-8 | chr6 | 32008312 | 32008538 |
CH-4 | chr6 | 32006337 | 32006633 |
CH-9 | chr6 | 32006797 | 32006804 |
TNXA/TNXB-1 | chr6 | 32009385 | 32009634 |
TNXA/TNXB-2 | chr6 | 32011678-32011716 | 32013627 |
TNXA/TNXB-3 | chr6 | 32013627 | 32013899 |
样本信息 | 21染色体 | 18染色体 | 13染色体 | 随访结果 |
1-外周血浆DNA | 正常 | 正常 | 正常 | 正常 |
2-外周血浆DNA | 正常 | 正常 | 正常 | 正常 |
Claims (2)
Priority Applications (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CN201410484128.XA CN104232777B (zh) | 2014-09-19 | 2014-09-19 | 同时确定胎儿核酸含量和染色体非整倍性的方法及装置 |
HK15102367.4A HK1201886A1 (zh) | 2014-09-19 | 2015-03-09 | 同時確定胎兒核酸含量和染色體非整倍性的方法及裝置 |
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CN201410484128.XA CN104232777B (zh) | 2014-09-19 | 2014-09-19 | 同时确定胎儿核酸含量和染色体非整倍性的方法及装置 |
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Publication Number | Publication Date |
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CN104232777A CN104232777A (zh) | 2014-12-24 |
CN104232777B true CN104232777B (zh) | 2016-08-24 |
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HK (1) | HK1201886A1 (zh) |
Families Citing this family (21)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN105803054A (zh) * | 2014-12-31 | 2016-07-27 | 天津华大基因科技有限公司 | 试剂盒及其在检测唇腭裂相关基因中的用途 |
CN107109324B (zh) * | 2015-01-16 | 2019-11-08 | 深圳华大基因股份有限公司 | 确定胎儿核酸含量的方法和装置 |
US10319463B2 (en) * | 2015-01-23 | 2019-06-11 | The Chinese University Of Hong Kong | Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations |
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 |
US10395759B2 (en) * | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
CN104951671B (zh) * | 2015-06-10 | 2017-09-19 | 东莞博奥木华基因科技有限公司 | 基于单样本外周血检测胎儿染色体非整倍性的装置 |
CN106544407B (zh) * | 2015-09-18 | 2019-11-08 | 广州华大基因医学检验所有限公司 | 确定受体cfDNA样本中供体来源cfDNA比例的方法 |
CN106701897A (zh) * | 2015-11-12 | 2017-05-24 | 深圳华大基因研究院 | 同时检测基因点突变、插入/缺失和cnv的方法及设备 |
CN106190775A (zh) * | 2016-08-08 | 2016-12-07 | 合肥安为康医学检验有限公司 | 胎儿dna无创检测设备 |
CN108277267B (zh) * | 2016-12-29 | 2019-08-13 | 安诺优达基因科技(北京)有限公司 | 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 |
CN106939334B (zh) * | 2017-01-13 | 2021-01-08 | 天昊生物医药科技(苏州)有限公司 | 一种孕妇血浆中胎儿dna含量的检测方法 |
CN106755486A (zh) * | 2017-01-19 | 2017-05-31 | 人和未来生物科技(长沙)有限公司 | 无创产前胎儿β 型地贫基因突变检测文库构建方法、检测方法和试剂盒 |
CN106755485A (zh) * | 2017-01-19 | 2017-05-31 | 人和未来生物科技(长沙)有限公司 | 无创产前胎儿α 型地贫基因突变检测文库构建方法、检测方法和试剂盒 |
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 |
CN109584959B (zh) * | 2018-12-27 | 2020-10-27 | 北京优迅医学检验实验室有限公司 | 测序深度的矫正方法及装置 |
DK3916105T3 (da) * | 2019-08-14 | 2023-04-17 | Bgi Genomics Co Ltd | Fremgangsmåde og indretning til bestemmelse af en føtal nukleinsyrekoncentration i blodet af en gravid kvinde |
CN111091868B (zh) * | 2019-12-23 | 2020-09-25 | 江苏先声医学诊断有限公司 | 一种染色体非整倍体的分析方法及系统 |
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 |
CN114945685A (zh) * | 2020-01-17 | 2022-08-26 | 深圳华大生命科学研究院 | 确定胎儿核酸浓度的方法以及胎儿基因分型方法 |
CN111139297B (zh) * | 2020-04-02 | 2020-07-03 | 北京大学第三医院(北京大学第三临床医学院) | 用于dmd的植入前胚胎遗传学诊断和产前诊断的试剂盒 |
WO2023010242A1 (zh) * | 2021-08-02 | 2023-02-09 | 深圳华大生命科学研究院 | 估计无创产前基因检测数据中胎儿核酸浓度的方法和系统 |
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CN103384725A (zh) * | 2010-12-23 | 2013-11-06 | 塞昆纳姆股份有限公司 | 胎儿遗传变异的检测 |
WO2014132244A1 (en) * | 2013-02-28 | 2014-09-04 | The Chinese University Of Hong Kong | Maternal plasma transcriptome analysis by massively parallel rna sequencing |
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2014
- 2014-09-19 CN CN201410484128.XA patent/CN104232777B/zh active Active
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- 2015-03-09 HK HK15102367.4A patent/HK1201886A1/zh unknown
Patent Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
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CN103384725A (zh) * | 2010-12-23 | 2013-11-06 | 塞昆纳姆股份有限公司 | 胎儿遗传变异的检测 |
WO2014132244A1 (en) * | 2013-02-28 | 2014-09-04 | The Chinese University Of Hong Kong | Maternal plasma transcriptome analysis by massively parallel rna sequencing |
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