WO2016010401A8 - 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 - Google Patents

산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 Download PDF

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Publication number
WO2016010401A8
WO2016010401A8 PCT/KR2015/007461 KR2015007461W WO2016010401A8 WO 2016010401 A8 WO2016010401 A8 WO 2016010401A8 KR 2015007461 W KR2015007461 W KR 2015007461W WO 2016010401 A8 WO2016010401 A8 WO 2016010401A8
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WO
WIPO (PCT)
Prior art keywords
prediction
genetic variations
maternal serum
serum dna
single nucleotide
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PCT/KR2015/007461
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English (en)
French (fr)
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WO2016010401A1 (ko
Inventor
남궁정현
Original Assignee
에스케이텔레콘 주식회사
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Publication date
Priority claimed from KR1020140194900A external-priority patent/KR20160010277A/ko
Application filed by 에스케이텔레콘 주식회사 filed Critical 에스케이텔레콘 주식회사
Priority to US15/313,713 priority Critical patent/US20170198348A1/en
Priority to EP15821867.7A priority patent/EP3171288A4/en
Priority to KR1020157019886A priority patent/KR101801871B1/ko
Priority to CN201580039127.7A priority patent/CN106537401A/zh
Publication of WO2016010401A1 publication Critical patent/WO2016010401A1/ko
Publication of WO2016010401A8 publication Critical patent/WO2016010401A8/ko

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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
    • 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

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

Abstract

본 발명은 산모의 무세포 DNA의 서열분석을 통해 태아의 단일유전자 유전변이 및 이로 인한 단일유전자 질환을 비침습적으로 탐지, 예측, 또는 진단하는 방법을 제공하며, 본 발명에 따른 진단 방법은 산모의 혈액 샘플을 이용하여 분석이 가능하다는 점에서 산모나 태아에게 해를 가하지 않으며 간편하다는 장점이 있으며, 또한 태아의 단일유전자성' 질환 (monogenic disorder)을 일으키는 단일유전자의 변이 여부를 조기에 판단할 수 있는 산전 진단 방법으로 유용하게 이용될 수 있다.
PCT/KR2015/007461 2014-07-18 2015-07-17 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 WO2016010401A1 (ko)

Priority Applications (4)

Application Number Priority Date Filing Date Title
US15/313,713 US20170198348A1 (en) 2014-07-18 2015-07-17 Method for prediction of fetal monogenic genetic variations using maternal serum dna
EP15821867.7A EP3171288A4 (en) 2014-07-18 2015-07-17 Method for prediction of fetal monogenic genetic variations using maternal serum dna
KR1020157019886A KR101801871B1 (ko) 2014-07-18 2015-07-17 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법
CN201580039127.7A CN106537401A (zh) 2014-07-18 2015-07-17 使用母体血清dna预测胎儿单基因遗传变异的方法

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201462026283P 2014-07-18 2014-07-18
US62/026,283 2014-07-18
KR10-2014-0194900 2014-12-31
KR1020140194900A KR20160010277A (ko) 2014-07-18 2014-12-31 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법

Publications (2)

Publication Number Publication Date
WO2016010401A1 WO2016010401A1 (ko) 2016-01-21
WO2016010401A8 true WO2016010401A8 (ko) 2016-02-25

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Application Number Title Priority Date Filing Date
PCT/KR2015/007461 WO2016010401A1 (ko) 2014-07-18 2015-07-17 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법

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WO (1) WO2016010401A1 (ko)

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
PT2183693E (pt) * 2007-07-23 2014-01-14 Univ Hong Kong Chinese Diagnóstico de aneuploidia cromossómica fetal utilizando sequenciação genómica
KR101781147B1 (ko) * 2008-12-22 2017-10-10 셀루라 인코포레이티드 대립유전자, 게놈 및 전사체 검출을 위한 방법 및 유전자형 분석 패널
SI2561103T1 (sl) * 2011-06-29 2014-11-28 Bgi Diagnosis Co., Ltd. Neinvazivna detekcija genetske anomalije ploda
GB201215449D0 (en) * 2012-08-30 2012-10-17 Zoragen Biotechnologies Llp Method of detecting chromosonal abnormalities
SG10201705198UA (en) * 2012-09-20 2017-07-28 Univ Hong Kong Chinese Non-invasive determination of methylome of fetus or tumor from plasma

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Publication number Publication date
WO2016010401A1 (ko) 2016-01-21

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