WO2014175604A3 - 아벨리노 각막이상증 진단용 조성물 및 이의 진단방법 - Google Patents

아벨리노 각막이상증 진단용 조성물 및 이의 진단방법 Download PDF

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Publication number
WO2014175604A3
WO2014175604A3 PCT/KR2014/003393 KR2014003393W WO2014175604A3 WO 2014175604 A3 WO2014175604 A3 WO 2014175604A3 KR 2014003393 W KR2014003393 W KR 2014003393W WO 2014175604 A3 WO2014175604 A3 WO 2014175604A3
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WO
WIPO (PCT)
Prior art keywords
corneal dystrophy
avellino corneal
diagnosing
diagnosing avellino
composition
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
PCT/KR2014/003393
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English (en)
French (fr)
Other versions
WO2014175604A2 (ko
Inventor
이희정
이소영
박병준
김종훈
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GC Medical Science Corp
Original Assignee
Green Cross Medical Science Corp
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 Green Cross Medical Science Corp filed Critical Green Cross Medical Science Corp
Publication of WO2014175604A2 publication Critical patent/WO2014175604A2/ko
Publication of WO2014175604A3 publication Critical patent/WO2014175604A3/ko
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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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
    • C12Q1/6883—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
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • 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
    • C12Q1/6858—Allele-specific amplification
    • 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
    • C12Q2531/00—Reactions of nucleic acids characterised by
    • C12Q2531/10—Reactions of nucleic acids characterised by the purpose being amplify/increase the copy number of target nucleic acid
    • C12Q2531/113—PCR

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

Abstract

본 발명은 아벨리노 각막이상증 진단용 조성물 및 이의 진단방법에 관한 것으로서, 본 발명에 따른 프라이머 세트 및 프로브를 이용하는 경우, 기존의 DNA 마이크로어레이나 PCR을 이용한 아벨리노 각막이상증 진단방법보다 신속하고 정확하게 아벨리노 각막이상증을 진단할 수 있으며, 동시에 인간 내부양성대조군의 시그널을 이용하여 아벨리노 각막이상증의 정확한 판정 및 검사에 사용된 핵산의 사용 적합성을 판별할 수 있다.
PCT/KR2014/003393 2013-04-23 2014-04-18 아벨리노 각막이상증 진단용 조성물 및 이의 진단방법 Ceased WO2014175604A2 (ko)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
KR1020130044730A KR101577109B1 (ko) 2013-04-23 2013-04-23 아벨리노 각막이상증 진단용 조성물 및 이의 진단방법
KR10-2013-0044730 2013-04-23

Publications (2)

Publication Number Publication Date
WO2014175604A2 WO2014175604A2 (ko) 2014-10-30
WO2014175604A3 true WO2014175604A3 (ko) 2014-12-18

Family

ID=51792470

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/KR2014/003393 Ceased WO2014175604A2 (ko) 2013-04-23 2014-04-18 아벨리노 각막이상증 진단용 조성물 및 이의 진단방법

Country Status (2)

Country Link
KR (1) KR101577109B1 (ko)
WO (1) WO2014175604A2 (ko)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR101692545B1 (ko) * 2015-01-16 2017-01-05 연세대학교 산학협력단 중증 아벨리노 각막이상증과 관련된 돌연변이 및 그 용도
EP4073095A4 (en) * 2019-12-11 2024-11-27 Avellino Lab USA, Inc. Allele-specific silencing of transforming growth factor beta induced gene with r124h mutation using short interfering rna
EP4659752A1 (en) * 2023-02-01 2025-12-10 Medicibio Co., Ltd Pharmaceutical composition using antisense oligonucleotide (aso) for prevention or treatment avellino corneal dystrophy

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090305394A1 (en) * 2006-01-18 2009-12-10 Medigenes Co., Ltd. Dna chip for diagnosis of corneal dystrophy
KR20100115030A (ko) * 2009-04-17 2010-10-27 (주)아벨리노 아벨리노 각막이상증 진단용 프라이머
KR20110037379A (ko) * 2009-10-06 2011-04-13 주식회사 크라운진 실시간 중합효소 연쇄반응과 고해상도 융해 분석을 이용한 아벨리노 각막이상증 검사 방법 및 이를 위한 검사 키트
KR101125212B1 (ko) * 2010-10-01 2012-03-21 (주)아벨리노 아벨리노 각막이상증 진단용 시스템
KR20130005208A (ko) * 2011-07-05 2013-01-15 (주)지노첵 리얼타임 ｐｃｒ을 이용한 카바페넴 내성 장내균 검사 방법 및 키트

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090305394A1 (en) * 2006-01-18 2009-12-10 Medigenes Co., Ltd. Dna chip for diagnosis of corneal dystrophy
KR20100115030A (ko) * 2009-04-17 2010-10-27 (주)아벨리노 아벨리노 각막이상증 진단용 프라이머
KR20110037379A (ko) * 2009-10-06 2011-04-13 주식회사 크라운진 실시간 중합효소 연쇄반응과 고해상도 융해 분석을 이용한 아벨리노 각막이상증 검사 방법 및 이를 위한 검사 키트
KR101125212B1 (ko) * 2010-10-01 2012-03-21 (주)아벨리노 아벨리노 각막이상증 진단용 시스템
KR20130005208A (ko) * 2011-07-05 2013-01-15 (주)지노첵 리얼타임 ｐｃｒ을 이용한 카바페넴 내성 장내균 검사 방법 및 키트

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
ZHENSHENG GU ET AL.: "An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree", MOLECULAR VISION, vol. 17, 2011, pages 3200 - 3207 *

Also Published As

Publication number Publication date
KR20140126496A (ko) 2014-10-31
KR101577109B1 (ko) 2015-12-11
WO2014175604A2 (ko) 2014-10-30

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