CA2658421C - Pkd mutations and evaluation of same - Google Patents

Pkd mutations and evaluation of same Download PDF

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Publication number
CA2658421C
CA2658421C CA2658421A CA2658421A CA2658421C CA 2658421 C CA2658421 C CA 2658421C CA 2658421 A CA2658421 A CA 2658421A CA 2658421 A CA2658421 A CA 2658421A CA 2658421 C CA2658421 C CA 2658421C
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CA
Canada
Prior art keywords
seq
pkd
nucleic acid
gene
nucleotide
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.)
Active
Application number
CA2658421A
Other languages
English (en)
French (fr)
Other versions
CA2658421A1 (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
Original Assignee
Johns Hopkins University
Athena Diagnostics Inc
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 Johns Hopkins University, Athena Diagnostics Inc filed Critical Johns Hopkins University
Priority to CA2993381A priority Critical patent/CA2993381C/en
Publication of CA2658421A1 publication Critical patent/CA2658421A1/en
Application granted granted Critical
Publication of CA2658421C publication Critical patent/CA2658421C/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

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Classifications

    • 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

Landscapes

  • 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)
CA2658421A 2006-07-24 2007-07-24 Pkd mutations and evaluation of same Active CA2658421C (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA2993381A CA2993381C (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
PCT/US2007/016705 WO2008094194A2 (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Related Child Applications (1)

Application Number Title Priority Date Filing Date
CA2993381A Division CA2993381C (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
CA2658421A1 CA2658421A1 (en) 2008-08-07
CA2658421C true CA2658421C (en) 2018-03-20

Family

ID=39674638

Family Applications (3)

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
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
CA2658421A Active CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Family Applications Before (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
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

Country Status (4)

Country Link
US (4) US8771946B2 (https=)
JP (1) JP2009544314A (https=)
CA (3) CA3081362C (https=)
WO (1) WO2008094194A2 (https=)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008094194A2 (en) 2006-07-24 2008-08-07 Athena Diagnostics, Inc. Pkd mutations and evaluation of same
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
AU2015327836B2 (en) 2014-10-03 2021-07-01 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
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
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
WO2017106377A1 (en) 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
JP2018538287A (ja) * 2015-12-14 2018-12-27 コールド スプリング ハーバー ラボラトリー 多発性嚢胞腎の処置のためのアンチセンスオリゴマー
KR102318434B1 (ko) 2017-08-25 2021-11-01 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
CA3099280A1 (en) 2018-05-04 2019-11-07 Stoke Therapeutics, Inc. Methods and compositions for treatment of cholesteryl ester storage disease
AU2020227825B2 (en) 2019-02-27 2026-03-26 Stoke Therapeutics, Inc. Antisense oligomers for treatment of conditions and diseases
CN115867657A (zh) 2020-05-11 2023-03-28 斯托克制药公司 用于治疗疾患和疾病的opa1反义寡聚物
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
AU1322795A (en) * 1993-12-24 1995-07-17 Erasmus University Rotterdam 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
CA2395781C (en) * 2000-07-13 2010-04-13 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
CA2872385C (en) 2003-04-11 2019-01-15 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
WO2008094194A2 (en) 2006-07-24 2008-08-07 Athena Diagnostics, Inc. Pkd mutations and evaluation of same

Also Published As

Publication number Publication date
JP2009544314A (ja) 2009-12-17
CA3081362C (en) 2024-04-09
US20230374593A1 (en) 2023-11-23
US8771946B2 (en) 2014-07-08
US10760128B2 (en) 2020-09-01
US20140349290A1 (en) 2014-11-27
CA2993381C (en) 2020-07-14
US20210079472A1 (en) 2021-03-18
CA3081362A1 (en) 2008-08-07
CA2658421A1 (en) 2008-08-07
CA2993381A1 (en) 2008-08-07
WO2008094194A3 (en) 2009-01-08
US11655508B2 (en) 2023-05-23
WO2008094194A2 (en) 2008-08-07
US20100047785A1 (en) 2010-02-25

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