AU2018250570A1 - Methods for multiplex detection of alleles associated with corneal dystrophy - Google Patents
Methods for multiplex detection of alleles associated with corneal dystrophy Download PDFInfo
- Publication number
- AU2018250570A1 AU2018250570A1 AU2018250570A AU2018250570A AU2018250570A1 AU 2018250570 A1 AU2018250570 A1 AU 2018250570A1 AU 2018250570 A AU2018250570 A AU 2018250570A AU 2018250570 A AU2018250570 A AU 2018250570A AU 2018250570 A1 AU2018250570 A1 AU 2018250570A1
- Authority
- AU
- Australia
- Prior art keywords
- reaction mixture
- detecting
- corneal dystrophy
- methods
- mutations
- 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.)
- Abandoned
Links
- 208000003923 Hereditary Corneal Dystrophies Diseases 0.000 title abstract 2
- 206010011005 corneal dystrophy Diseases 0.000 title abstract 2
- 238000001514 detection method Methods 0.000 title abstract 2
- 238000000034 method Methods 0.000 title abstract 2
- 108700028369 Alleles Proteins 0.000 title 1
- 239000011541 reaction mixture Substances 0.000 abstract 4
- 230000035772 mutation Effects 0.000 abstract 3
- 101150040304 TGFBI gene Proteins 0.000 abstract 2
- 239000000523 sample Substances 0.000 abstract 2
- 101000894525 Homo sapiens Transforming growth factor-beta-induced protein ig-h3 Proteins 0.000 abstract 1
- 102100021398 Transforming growth factor-beta-induced protein ig-h3 Human genes 0.000 abstract 1
- 230000003321 amplification Effects 0.000 abstract 1
- 239000012472 biological sample Substances 0.000 abstract 1
- 238000003199 nucleic acid amplification method Methods 0.000 abstract 1
- 239000002773 nucleotide Substances 0.000 abstract 1
- 125000003729 nucleotide group Chemical group 0.000 abstract 1
Classifications
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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
- 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
-
- 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
- G01N33/58—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving labelled substances
- G01N33/582—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving labelled substances with fluorescent label
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Analytical Chemistry (AREA)
- Wood Science & Technology (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Immunology (AREA)
- Physics & Mathematics (AREA)
- Microbiology (AREA)
- Biotechnology (AREA)
- Biochemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Pathology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- Biomedical Technology (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- Cell Biology (AREA)
- Food Science & Technology (AREA)
- Medicinal Chemistry (AREA)
- General Physics & Mathematics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (9)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201762483588P | 2017-04-10 | 2017-04-10 | |
| US62/483,588 | 2017-04-10 | ||
| US201762573537P | 2017-10-17 | 2017-10-17 | |
| US62/573,537 | 2017-10-17 | ||
| US201862624660P | 2018-01-31 | 2018-01-31 | |
| US201862624661P | 2018-01-31 | 2018-01-31 | |
| US62/624,660 | 2018-01-31 | ||
| US62/624,661 | 2018-01-31 | ||
| PCT/US2018/026962 WO2018191304A1 (en) | 2017-04-10 | 2018-04-10 | Methods for multiplex detection of alleles associated with corneal dystrophy |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| AU2018250570A1 true AU2018250570A1 (en) | 2019-11-21 |
Family
ID=63792919
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| AU2018250570A Abandoned AU2018250570A1 (en) | 2017-04-10 | 2018-04-10 | Methods for multiplex detection of alleles associated with corneal dystrophy |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US11905560B2 (enExample) |
| EP (1) | EP3610015A4 (enExample) |
| JP (2) | JP7303113B2 (enExample) |
| KR (1) | KR102701188B1 (enExample) |
| CN (1) | CN110945126B (enExample) |
| AU (1) | AU2018250570A1 (enExample) |
| CA (1) | CA3059591A1 (enExample) |
| WO (1) | WO2018191304A1 (enExample) |
Families Citing this family (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| KR102241836B1 (ko) * | 2019-06-14 | 2021-04-21 | 솔젠트 (주) | 듀얼 체크 올리고를 이용한 유전자 다형성 검사 방법 |
| CN113088569A (zh) * | 2020-01-09 | 2021-07-09 | 北京中因科技有限公司 | 一种多重荧光定量pcr试剂盒 |
| CN113999899A (zh) * | 2020-07-28 | 2022-02-01 | 首都医科大学附属北京同仁医院 | 一种检测tgfbi基因突变的试剂盒 |
| CN113848327A (zh) * | 2021-09-18 | 2021-12-28 | 天津市眼科医院 | 用于高度近视风险预测以及高度近视辅助诊断的标志物组合物及其应用 |
| CN116024335A (zh) * | 2023-02-14 | 2023-04-28 | 福建佰孟医学科技有限公司 | 一种角膜营养不良基因突变检测引物组合物、试剂盒及检测方法 |
Family Cites Families (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5962332A (en) | 1994-03-17 | 1999-10-05 | University Of Massachusetts | Detection of trinucleotide repeats by in situ hybridization |
| KR20070076532A (ko) | 2006-01-18 | 2007-07-24 | 메디제네스(주) | 각막이영양증 진단용 ｄｎａ 칩 |
| KR101041606B1 (ko) | 2009-08-18 | 2011-06-15 | (주)아벨리노 | 다중 스팟 금속 증착형 나노구조배열 각막이상증 진단용 핵산칩 및 이의 제조방법 |
| JPWO2011052755A1 (ja) | 2009-10-30 | 2013-03-21 | アークレイ株式会社 | Ｍｐｌ遺伝子多型検出用プローブおよびその用途 |
| KR101320943B1 (ko) | 2010-04-20 | 2013-10-23 | 연세대학교 산학협력단 | Ｔｇｆｂｉ 유전자 변이 각막 이상증의 예방 또는 치료용 약제학적 조성물 및 그의 스크리닝 방법 |
| KR101258166B1 (ko) | 2010-09-01 | 2013-04-25 | 연세대학교 산학협력단 | Ｔｇｆｂｉ 유전자 변이 각막 이상증의 예방 또는 치료용 약제학적 조성물 및 그의 스크리닝 방법 |
| KR101125212B1 (ko) | 2010-10-01 | 2012-03-21 | (주)아벨리노 | 아벨리노 각막이상증 진단용 시스템 |
| EP3872192A1 (en) | 2013-11-15 | 2021-09-01 | Avellino Lab USA, Inc. | Methods for multiplex detection of alleles associated with ophthalmic conditions |
| KR20160088028A (ko) * | 2015-01-15 | 2016-07-25 | 정정원 | Tgfbi-연관 각막이상증 진단방법 및 키트 |
-
2018
- 2018-04-10 WO PCT/US2018/026962 patent/WO2018191304A1/en not_active Ceased
- 2018-04-10 EP EP18784486.5A patent/EP3610015A4/en not_active Withdrawn
- 2018-04-10 CA CA3059591A patent/CA3059591A1/en active Pending
- 2018-04-10 US US16/604,310 patent/US11905560B2/en active Active
- 2018-04-10 KR KR1020197032795A patent/KR102701188B1/ko active Active
- 2018-04-10 CN CN201880033645.1A patent/CN110945126B/zh active Active
- 2018-04-10 JP JP2019555594A patent/JP7303113B2/ja active Active
- 2018-04-10 AU AU2018250570A patent/AU2018250570A1/en not_active Abandoned
-
2023
- 2023-05-26 JP JP2023086757A patent/JP2023116533A/ja active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| KR102701188B1 (ko) | 2024-08-30 |
| JP7303113B2 (ja) | 2023-07-04 |
| JP2020516280A (ja) | 2020-06-11 |
| CN110945126B (zh) | 2024-04-26 |
| WO2018191304A1 (en) | 2018-10-18 |
| CN110945126A (zh) | 2020-03-31 |
| KR20200017386A (ko) | 2020-02-18 |
| JP2023116533A (ja) | 2023-08-22 |
| US11905560B2 (en) | 2024-02-20 |
| EP3610015A4 (en) | 2021-05-19 |
| EP3610015A1 (en) | 2020-02-19 |
| US20200040397A1 (en) | 2020-02-06 |
| CA3059591A1 (en) | 2018-10-18 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| MK5 | Application lapsed section 142(2)(e) - patent request and compl. specification not accepted |