CN110997940A - 用于检测与圆锥角膜相关的等位基因的方法 - Google Patents

用于检测与圆锥角膜相关的等位基因的方法 Download PDF

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CN110997940A
CN110997940A CN201880040439.3A CN201880040439A CN110997940A CN 110997940 A CN110997940 A CN 110997940A CN 201880040439 A CN201880040439 A CN 201880040439A CN 110997940 A CN110997940 A CN 110997940A
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genetic variants
variants
genetic
dna
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L.德迪奥尼西欧
T.摩尔
A.内斯比特
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Avellino Lab USA Inc
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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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • 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
    • C12Q2600/118—Prognosis of disease development
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/16—Ophthalmology
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
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  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Ophthalmology & Optometry (AREA)
  • General Chemical & Material Sciences (AREA)
  • Animal Behavior & Ethology (AREA)
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  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Materials For Medical Uses (AREA)
CN201880040439.3A 2017-04-28 2018-04-27 用于检测与圆锥角膜相关的等位基因的方法 Pending CN110997940A (zh)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201762492060P 2017-04-28 2017-04-28
US62/492,060 2017-04-28
US201762570620P 2017-10-10 2017-10-10
US62/570,620 2017-10-10
PCT/US2018/029836 WO2018200980A1 (en) 2017-04-28 2018-04-27 Methods for detecting alleles associated with keratoconus

Publications (1)

Publication Number Publication Date
CN110997940A true CN110997940A (zh) 2020-04-10

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CN201880040439.3A Pending CN110997940A (zh) 2017-04-28 2018-04-27 用于检测与圆锥角膜相关的等位基因的方法

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US (1) US20200190587A1 (enExample)
EP (1) EP3628056A4 (enExample)
JP (2) JP7244437B2 (enExample)
KR (1) KR102602627B1 (enExample)
CN (1) CN110997940A (enExample)
AU (1) AU2018258580A1 (enExample)
CA (1) CA3061620A1 (enExample)
WO (1) WO2018200980A1 (enExample)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4036228A1 (en) 2015-11-13 2022-08-03 Avellino Lab USA, Inc. Methods for the treatment of corneal dystrophies
JP7097850B2 (ja) * 2019-04-23 2022-07-08 ジェネシスヘルスケア株式会社 遠視のリスクを判定する方法
JP7097851B2 (ja) * 2019-04-23 2022-07-08 ジェネシスヘルスケア株式会社 乱視のリスクを判定する方法
EP4355338A4 (en) * 2021-06-18 2025-12-24 Ionis Pharmaceuticals Inc COMPOUNDS AND METHODS FOR REDUCING THE EXPRESSION OF IFNAR1
WO2023004189A1 (en) * 2021-07-23 2023-01-26 Avellino Lab Usa, Inc. Method for detecting alleles associated with keratoconus

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20130027281A (ko) * 2011-09-07 2013-03-15 (주)에스엘에스 원추각막 검사 방법 및 키트
CN105256059A (zh) * 2015-11-20 2016-01-20 山东省眼科研究所 Tuba3d基因在制备圆锥角膜诊断制品中的应用
CN107075485A (zh) * 2014-09-05 2017-08-18 国立大学法人大阪大学 角膜内皮细胞标记

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US5210015A (en) 1990-08-06 1993-05-11 Hoffman-La Roche Inc. Homogeneous assay system using the nuclease activity of a nucleic acid polymerase
US5925517A (en) 1993-11-12 1999-07-20 The Public Health Research Institute Of The City Of New York, Inc. Detectably labeled dual conformation oligonucleotide probes, assays and kits
DE69739357D1 (de) 1996-06-04 2009-05-28 Univ Utah Res Found Überwachung der hybridisierung während pcr
US6117635A (en) 1996-07-16 2000-09-12 Intergen Company Nucleic acid amplification oligonucleotides with molecular energy transfer labels and methods based thereon
GB9812768D0 (en) 1998-06-13 1998-08-12 Zeneca Ltd Methods
US6270970B1 (en) 1999-05-14 2001-08-07 Promega Corporation Mixed-bed solid phase and its use in the isolation of nucleic acids
CN106282383B (zh) 2016-10-08 2019-05-31 山东省眼科研究所 Krt12基因在检测圆锥角膜中的应用

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20130027281A (ko) * 2011-09-07 2013-03-15 (주)에스엘에스 원추각막 검사 방법 및 키트
CN107075485A (zh) * 2014-09-05 2017-08-18 国立大学法人大阪大学 角膜内皮细胞标记
CN105256059A (zh) * 2015-11-20 2016-01-20 山东省眼科研究所 Tuba3d基因在制备圆锥角膜诊断制品中的应用

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
XIAOHUI LI ET AL.: "Two-Stage Genome-Wide Linkage Scan in Keratoconus Sib Pair Families" *
YANI WANG ET AL.: "Association of Interleukin-1 Gene Single Nucleotide Polymorphisms with Keratoconus in Chinese Han Population" *
YELENA BYKHOVSKAYA ET AL.: "Variation in the Lysyl Oxidase (LOX) Gene Is Associated with Keratoconus in Family-Based and Case-Control Studies" *
YI LU ET AL.: "Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus" *
夏卫东等: "角膜地形图分析在圆锥角膜早期诊断中的重要作用" *

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Publication number Publication date
JP2023085286A (ja) 2023-06-20
WO2018200980A1 (en) 2018-11-01
CA3061620A1 (en) 2018-11-01
KR20200017392A (ko) 2020-02-18
EP3628056A1 (en) 2020-04-01
KR102602627B1 (ko) 2023-11-16
JP2020517296A (ja) 2020-06-18
EP3628056A4 (en) 2021-03-03
AU2018258580A1 (en) 2019-11-21
JP7244437B2 (ja) 2023-03-22
US20200190587A1 (en) 2020-06-18

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Application publication date: 20200410