NL1044132B1 - Kit and method for abo blood group genotyping based on high-throughput sequencing - Google Patents

Kit and method for abo blood group genotyping based on high-throughput sequencing Download PDF

Info

Publication number
NL1044132B1
NL1044132B1 NL1044132A NL1044132A NL1044132B1 NL 1044132 B1 NL1044132 B1 NL 1044132B1 NL 1044132 A NL1044132 A NL 1044132A NL 1044132 A NL1044132 A NL 1044132A NL 1044132 B1 NL1044132 B1 NL 1044132B1
Authority
NL
Netherlands
Prior art keywords
abo
blood group
sequencing
abo blood
typing
Prior art date
Application number
NL1044132A
Other languages
English (en)
Other versions
NL1044132A (en
Inventor
Liang Yanlian
Peng Long
Wu Fan
Xu Yunping
Hong Wenxu
Su Yuqing
Liang Shuang
Original Assignee
Shenzhen Blood Center Shenzhen Inst Of Transfusion Medicine
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Shenzhen Blood Center Shenzhen Inst Of Transfusion Medicine filed Critical Shenzhen Blood Center Shenzhen Inst Of Transfusion Medicine
Publication of NL1044132A publication Critical patent/NL1044132A/en
Application granted granted Critical
Publication of NL1044132B1 publication Critical patent/NL1044132B1/en

Links

Classifications

    • 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
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • 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
    • C12Q1/6888—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
    • 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
    • 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
    • C12Q2600/16—Primer sets for multiplex assays
    • 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
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Claims (10)

CONCLUSIES
1. Kit voor ABO-hlosdgroepgenctypering op basis van sequeneren met hoge verwerkingscapaciteit door het vastleggen van meervoudige PCR, die een primerset omvat die bestaat uit primers met de nuclectidesequenties die respectievslijk in SEQ ID NRJ-SEQ ID NR.248 worden getoond.
2. Werkwijze voor ABO-bloedgroepgenotypering op basis van segueneren met hoge verwerkingscapaciteit door het vastleggen van mesrvoudige PCR, die de volgende stappen omvat:
S1. het verkrijgen van DNA-monsters van een individu;
S2. het uitvoeren van PCR-amplificatie op het DNA-monster door een primerset die beslaat uit primers met de nucleolidsseguenties die respectievelijk in SEQ ID NRT-SEGQ ID NR.248 worden gstoond, waarbij de doelzonesectie wordt vastgelegd om een DNA-bibliotheek te verkrijgen;
S3.het verder amplificeran van de DNA-biblotheek door POR. anpiificatieprimers met sequentie-adapters;
S4. de DNA-bibliotheek het sequeneren met hoge verwerkingscapacitelt op een liumina-platform laten uitvoeren om sequentiedata te verkrijgen;
85. het na voorbewerking van de seguentiedata uilvosren van ABO-bloedgroep- genatypering volgens de volgende subslappen:
551. het vergelijken van de sequentie met de menselijke referentiegenoom met behulp van vergelijkingssoftware, S552. het analyseren van het variatielype dat in het monster aanwezig is en het toevoegen van annolatie-informatie aan de variatislocatie met behulp van annotatiesoftware,
S53. het analyseren van het vergelijkingsresultaat en het annotatieresultaat en het verkrijgen van het haplotype van de varialielocatie van het monster,
S54. het vergelijken van het haplolyperesultaat van de monstsrvariatislocatie met de ABQ-bloedgroepsysteemdatabase om de ABO- bloedgroeptypering te verkrijgen.
3. Werkwijze volgens conclusie 2 waarbij de werkwijze verder een stap omvalt van het zuiveren van de DNA-bibliotheek met magnetische korrels lussen 82 en 83.
4. Werkwijze volgens conclusie 2 waarbij de werkwijze verder een stap omvat van het zuiveren van de geamplificeerde DNA-bibliotheek met behulp van tweasiaps magnstische korrelzuivering tussen stappen S3 en 84.
5. Werkwijze volgens conclusie 2 waarbij de werkwijze verder een stap omvat van het uitvoeren van kwaliteitsinspectie met gelelekiroforese op de bibliotheek voor stap 83, en indien de hoofdgeleleldroforeseband ongeveer 400 bp is dan is de kwaliteitsinspactie gekwalficeerd.
©. Werkwijze volgens conclusie 2 waarbij de voorbewerking in stap S5 betrekking heeft op het uitvoeren van kweliteitsinspectie en het fileren van de segusntiedata, het verwijderen van sequentiedata met lage kwaliteit en het verwerken van adaptersequentiedata.
7 Werkwijze volgens conclusie 2 waarbij de vergslijkingssoftware BWA-software is.
8. Werkwijze volgens conclusie 2 waarbij de annotatiesoftware annovar-softwara is.
9, Werkwijze volgens conclusie 2 waarbij de ABO-bloedgroepsysteemdatabase ABO-blosdgrospdata in dbRBC en ISBT-databases omvat, alsmede andere bestaande ABO-bloedgroepdata.
10, Werkwijze volgens conclusie 2 waarbij indien het In substap S54 verkregen ABO-bloedgroepgsnotyperingresuliaat niet uniek is, de werkwijze verder een stap omvat van het analyseren van de populatiefreguentie van de kandidaattypering van de ABO-bloedgroep om het meest waarschijnlijke typeringsresultaat van de ABO- bloedgroep te verkrijgen.
NL1044132A 2020-08-31 2021-08-25 Kit and method for abo blood group genotyping based on high-throughput sequencing NL1044132B1 (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
CN202010899592.0A CN112029842B (zh) 2020-08-31 2020-08-31 一种基于高通量测序进行abo血型基因分型的试剂盒和方法

Publications (2)

Publication Number Publication Date
NL1044132A NL1044132A (en) 2022-04-29
NL1044132B1 true NL1044132B1 (en) 2023-04-19

Family

ID=73586511

Family Applications (1)

Application Number Title Priority Date Filing Date
NL1044132A NL1044132B1 (en) 2020-08-31 2021-08-25 Kit and method for abo blood group genotyping based on high-throughput sequencing

Country Status (2)

Country Link
CN (1) CN112029842B (nl)
NL (1) NL1044132B1 (nl)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112908413A (zh) * 2021-03-22 2021-06-04 深圳市血液中心(深圳市输血医学研究所) 一种基于abo基因的血型分型方法
CN113584222A (zh) * 2021-06-23 2021-11-02 华中科技大学同济医学院附属同济医院 用于检测covid-19易感性的分子标记、试剂盒及应用
CN114457169A (zh) * 2022-03-07 2022-05-10 南京鼓楼医院 一种基于高通量测序的RhD基因型检测方法
CN115725711A (zh) * 2022-08-16 2023-03-03 深圳市血液中心(深圳市输血医学研究所) 冰冻全血中血型抗原编码基因的扩增引物组及扩增方法和基因分型方法

Family Cites Families (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1802767A2 (en) * 2004-09-22 2007-07-04 University Of The West Of England, Bristol Rhd and abo genotyping by multiplex pcr
CN101921834B (zh) * 2010-05-17 2012-12-19 浙江省血液中心 一种abo血型基因分型的pcr-sbt方法及试剂
CN102115788B (zh) * 2010-12-02 2012-12-26 公安部物证鉴定中心 一种snp复合检测体系和检测方法
CN103374609B (zh) * 2012-04-12 2014-11-26 益善生物技术股份有限公司 Abo基因突变检测特异性引物和液相芯片
CN108624663A (zh) * 2017-03-23 2018-10-09 上海市血液中心 一种人类红细胞abo血型抗原多重pcr分型方法及试剂盒
CN108103204B (zh) * 2017-12-15 2018-10-02 东莞博奥木华基因科技有限公司 基于多重PCR及二代测序的Rh血型分型方法及装置
CN110400602B (zh) * 2018-04-23 2022-03-25 深圳华大生命科学研究院 一种基于测序数据的abo血型***分型方法及其应用
CN109554448B (zh) * 2018-12-27 2019-08-30 浙江省血液中心 一种人类红细胞血型***abo抗原的多重pcr-sbt基因分型方法及试剂
CN110387438A (zh) * 2019-07-08 2019-10-29 广东省公共卫生研究院 用于肠道病毒高通量测序的多重引物、试剂盒和方法
CN111020061B (zh) * 2019-12-31 2021-01-05 广州迈景基因医学科技有限公司 基于高通量测序检测hpv的多重pcr引物组、试剂盒及其方法

Also Published As

Publication number Publication date
NL1044132A (en) 2022-04-29
CN112029842A (zh) 2020-12-04
CN112029842B (zh) 2021-04-27

Similar Documents

Publication Publication Date Title
NL1044132B1 (en) Kit and method for abo blood group genotyping based on high-throughput sequencing
Petersen et al. Capillary electrophoresis and its application in the clinical laboratory
CN102329876B (zh) 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
WO2017045654A1 (zh) 确定受体cfDNA样本中供体来源cfDNA比例的方法
CN116042833A (zh) 比对和变体测序分析管线
Orzińska et al. Prediction of fetal blood group and platelet antigens from maternal plasma using next‐generation sequencing
CN110577990B (zh) 一种检测地贫基因突变的试剂盒
Srivorakun et al. Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system
NL1044005B1 (en) Method for analysing human blood group genotype based on high-through sequencing, and application thereof
Yin et al. Challenges in the application of NGS in the clinical laboratory
Jakobsen et al. The use of next‐generation sequencing for the determination of rare blood group genotypes
CN108103204B (zh) 基于多重PCR及二代测序的Rh血型分型方法及装置
Watson Analysis of Body Fluids
Mathieson et al. Extracting DNA from FFPE tissue biospecimens using user-friendly automated technology: is there an impact on yield or quality?
Peyrard Use of genomics for decision‐making in transfusion medicine: laboratory practice
CN111378732B (zh) 一种线粒体基因组测序引物、试剂盒及方法
CN113564266B (zh) Snp分型遗传标记组合、检测试剂盒及用途
Schmidt et al. Genotyping of familial Mediterranean fever gene (MEFV)—Single nucleotide polymorphism—Comparison of Nanopore with conventional Sanger sequencing
CN108866154B (zh) 基于长片段dna捕获和三代测序的无创产前单体型构建方法
CN116463408A (zh) 一种abo基因扩增引物、扩增体系、扩增方法、测序文库构建方法及测序方法
CN111808937A (zh) 一种类孟买血型FUT1 508dupT等位基因及其检测方法和应用
CN117106877A (zh) 一种rhd基因引物、引物混合体系、引物混合体系扩增方法、扩增产物质检方法、测序文库构建方法及测序方法
CN108130359A (zh) 一种dna甲基化检测试剂盒及其应用
CN113667673B (zh) 一种类孟买血型FUT1 236delG等位基因及其检测方法和应用
Donati et al. Detection of exon 5 c. 577del variant of human erythropoietin gene in whole blood, dried blood spots and urine samples for doping control