CA2993381C - Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1 - Google Patents

Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1 Download PDF

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Publication number
CA2993381C
CA2993381C CA2993381A CA2993381A CA2993381C CA 2993381 C CA2993381 C CA 2993381C CA 2993381 A CA2993381 A CA 2993381A CA 2993381 A CA2993381 A CA 2993381A CA 2993381 C CA2993381 C CA 2993381C
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Canada
Prior art keywords
seq
pkd
gene
exon
pkd1
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CA2993381A
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English (en)
French (fr)
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CA2993381A1 (en
Inventor
Terry J. Watnick
Miguel Garcia-Gonzalez
Gregory G. Germino
Jeffrey G. Jones
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Johns Hopkins University
Athena Diagnostics Inc
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Johns Hopkins University
Athena Diagnostics Inc
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Priority to CA3081362A priority Critical patent/CA3081362C/en
Publication of CA2993381A1 publication Critical patent/CA2993381A1/en
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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
    • 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
    • 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
    • C12Q2600/158—Expression markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CA2993381A 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1 Active CA2993381C (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA3081362A CA3081362C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US83278006P 2006-07-24 2006-07-24
US60/832,780 2006-07-24
CA2658421A CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA2658421A Division CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Related Child Applications (1)

Application Number Title Priority Date Filing Date
CA3081362A Division CA3081362C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1

Publications (2)

Publication Number Publication Date
CA2993381A1 CA2993381A1 (en) 2008-08-07
CA2993381C true CA2993381C (en) 2020-07-14

Family

ID=39674638

Family Applications (3)

Application Number Title Priority Date Filing Date
CA2993381A Active CA2993381C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
CA3081362A Active CA3081362C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
CA2658421A Active CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Family Applications After (2)

Application Number Title Priority Date Filing Date
CA3081362A Active CA3081362C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
CA2658421A Active CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Country Status (4)

Country Link
US (4) US8771946B2 (enExample)
JP (1) JP2009544314A (enExample)
CA (3) CA2993381C (enExample)
WO (1) WO2008094194A2 (enExample)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2993381C (en) 2006-07-24 2020-07-14 Athena Diagnostics, Inc. Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
CN107109411B (zh) 2014-10-03 2022-07-01 冷泉港实验室 核基因输出的定向增加
US10538812B2 (en) 2014-11-19 2020-01-21 Otsuka Pharmaceutical Co., Ltd. Primer set and method for amplifying exons of PKD1 gene and PKD2 gene
CN108603230A (zh) 2015-10-09 2018-09-28 南安普敦大学 基因表达的调节与蛋白质表达失调的筛选
CN116059236A (zh) 2015-12-14 2023-05-05 冷泉港实验室 用于治疗常染色体显性精神发育迟滞5型和Dravet综合征的反义寡聚体
CA3005247A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of polycystic kidney disease
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
KR20260009385A (ko) 2017-08-25 2026-01-19 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
JP2021523227A (ja) 2018-05-04 2021-09-02 ストーク セラピューティクス，インク． コレステリルエステル蓄積症の処置のための方法及び組成物
KR20210134003A (ko) 2019-02-27 2021-11-08 스톡 테라퓨틱스, 인크. 병태 및 질환의 치료를 위한 안티센스 올리고머
US12338437B2 (en) 2020-05-11 2025-06-24 Stoke Therapeutics, Inc. OPA1 antisense oligomers for treatment of conditions and diseases
CN115725716B (zh) * 2022-09-20 2024-04-30 湖南家辉生物技术有限公司 Pkd1致病突变基因及在制备多囊肾病诊断试剂盒中的应用

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0733110A1 (en) 1993-12-24 1996-09-25 University of Wales College of Medicine Tuberous sclerosis 2 gene and uses thereof
US6867288B1 (en) * 1994-10-12 2005-03-15 Genzyme Corporation Polycystic kidney disease gene
US6031088A (en) 1996-05-23 2000-02-29 Albert Einstein College Of Medicine Of Yeshiva University Polycystic kidney disease PKD2 gene and uses thereof
US6100386A (en) * 1996-11-01 2000-08-08 Cold Spring Harbor Laboratory Human gene/protein involved in chronic myelogenous leukemia
AU2001271998A1 (en) * 2000-07-13 2002-01-30 The Johns Hopkins University School Of Medicine Detection and treatment of polycystic kidney disease
US7273701B2 (en) 2001-10-12 2007-09-25 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
US6916619B2 (en) 2001-10-12 2005-07-12 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
CA2461106C (en) * 2003-04-11 2015-02-24 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
CA2993381C (en) 2006-07-24 2020-07-14 Athena Diagnostics, Inc. Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1

Also Published As

Publication number Publication date
CA2658421A1 (en) 2008-08-07
US20100047785A1 (en) 2010-02-25
US20210079472A1 (en) 2021-03-18
JP2009544314A (ja) 2009-12-17
CA3081362A1 (en) 2008-08-07
CA2658421C (en) 2018-03-20
US11655508B2 (en) 2023-05-23
US20230374593A1 (en) 2023-11-23
US20140349290A1 (en) 2014-11-27
US8771946B2 (en) 2014-07-08
CA2993381A1 (en) 2008-08-07
WO2008094194A3 (en) 2009-01-08
CA3081362C (en) 2024-04-09
WO2008094194A2 (en) 2008-08-07
US10760128B2 (en) 2020-09-01

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