CN110945126B - 用于与角膜营养不良有关的等位基因的多重检测的方法 - Google Patents

用于与角膜营养不良有关的等位基因的多重检测的方法 Download PDF

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CN110945126B
CN110945126B CN201880033645.1A CN201880033645A CN110945126B CN 110945126 B CN110945126 B CN 110945126B CN 201880033645 A CN201880033645 A CN 201880033645A CN 110945126 B CN110945126 B CN 110945126B
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tgfbi
nucleotide sequence
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CN110945126A (zh
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C.赵-沈
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Avellino Lab USA Inc
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    • 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

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  • Chemical & Material Sciences (AREA)
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  • Organic Chemistry (AREA)
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  • Biomedical Technology (AREA)
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  • Urology & Nephrology (AREA)
  • Cell Biology (AREA)
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  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN201880033645.1A 2017-04-10 2018-04-10 用于与角膜营养不良有关的等位基因的多重检测的方法 Active CN110945126B (zh)

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
US201862624661P 2018-01-31 2018-01-31
US201862624660P 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

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CN110945126A CN110945126A (zh) 2020-03-31
CN110945126B true CN110945126B (zh) 2024-04-26

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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)

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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

Citations (3)

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US5962332A (en) * 1994-03-17 1999-10-05 University Of Massachusetts Detection of trinucleotide repeats by in situ hybridization
JP2013502215A (ja) * 2009-08-18 2013-01-24 コリア アドバンスド インスティチュート オブ サイエンス アンド テクノロジィ 多重スポット金属蒸着型ナノ構造配列角膜ジストロフィー診断用核酸チップ及びこの製造方法
CN105899681A (zh) * 2013-11-15 2016-08-24 阿维利诺美国实验室股份有限公司 用于与眼科状况有关的等位基因的多重检测的方法

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KR20070076532A (ko) * 2006-01-18 2007-07-24 메디제네스(주) 각막이영양증 진단용 ｄｎａ 칩
CN102741402A (zh) 2009-10-30 2012-10-17 爱科来株式会社 Mpl基因多态性检测用探针及其用途
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
KR20160088028A (ko) * 2015-01-15 2016-07-25 정정원 Tgfbi-연관 각막이상증 진단방법 및 키트

Patent Citations (3)

* Cited by examiner, † Cited by third party
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
JP2013502215A (ja) * 2009-08-18 2013-01-24 コリア アドバンスド インスティチュート オブ サイエンス アンド テクノロジィ 多重スポット金属蒸着型ナノ構造配列角膜ジストロフィー診断用核酸チップ及びこの製造方法
CN105899681A (zh) * 2013-11-15 2016-08-24 阿维利诺美国实验室股份有限公司 用于与眼科状况有关的等位基因的多重检测的方法

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Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies;R. LAKSHMINARAYANAN et al.;《THE OCULAR SURFACE》;第12卷(第4期);234-251 *
Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype–phenotype correlations;Juan Carlos Zenteno et al.;《Experimental Eye Research》;第89卷;172-177 *
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing;Connie Chao-Shern et al.;《Eye》;第33卷;874-881 *
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy;Cerys J. Evans et al.;《IOVS》;第57卷(第13期);5407-5414 *
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations;Florence Niel-Butschi et al.;《Molecular Vision》;第17卷;1192-1202 *
TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China;Li Zeng et al.;《Scientific Reports》;第7卷;1-5 *

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JP7303113B2 (ja) 2023-07-04
EP3610015A4 (en) 2021-05-19
JP2023116533A (ja) 2023-08-22
WO2018191304A1 (en) 2018-10-18
US11905560B2 (en) 2024-02-20
US20200040397A1 (en) 2020-02-06
JP2020516280A (ja) 2020-06-11
KR20200017386A (ko) 2020-02-18
CN110945126A (zh) 2020-03-31
AU2018250570A1 (en) 2019-11-21
EP3610015A1 (en) 2020-02-19
KR102701188B1 (ko) 2024-08-30
CA3059591A1 (en) 2018-10-18

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