IL130825A - Extensive genetic characterization of diseases and diagnostic testing for ataxia of spinal cord type 6 - Google Patents

Extensive genetic characterization of diseases and diagnostic testing for ataxia of spinal cord type 6

Info

Publication number
IL130825A
IL130825A IL13082598A IL13082598A IL130825A IL 130825 A IL130825 A IL 130825A IL 13082598 A IL13082598 A IL 13082598A IL 13082598 A IL13082598 A IL 13082598A IL 130825 A IL130825 A IL 130825A
Authority
IL
Israel
Prior art keywords
repeat
genomic dna
sequence
ataxia
human
Prior art date
Application number
IL13082598A
Other languages
English (en)
Hebrew (he)
Other versions
IL130825A0 (en
Inventor
Cheng-Chi Lee
Original Assignee
Res Dev Foundation
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 Res Dev Foundation filed Critical Res Dev Foundation
Publication of IL130825A0 publication Critical patent/IL130825A0/xx
Publication of IL130825A publication Critical patent/IL130825A/en

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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
    • 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
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Eye Examination Apparatus (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Compositions Of Oxide Ceramics (AREA)
  • Measurement And Recording Of Electrical Phenomena And Electrical Characteristics Of The Living Body (AREA)
IL13082598A 1997-01-07 1998-01-07 Extensive genetic characterization of diseases and diagnostic testing for ataxia of spinal cord type 6 IL130825A (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US08/779,801 US5853995A (en) 1997-01-07 1997-01-07 Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6
PCT/US1998/000060 WO1998044155A1 (en) 1997-01-07 1998-01-07 Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6

Publications (2)

Publication Number Publication Date
IL130825A0 IL130825A0 (en) 2001-01-28
IL130825A true IL130825A (en) 2004-08-31

Family

ID=25117616

Family Applications (1)

Application Number Title Priority Date Filing Date
IL13082598A IL130825A (en) 1997-01-07 1998-01-07 Extensive genetic characterization of diseases and diagnostic testing for ataxia of spinal cord type 6

Country Status (13)

Country Link
US (3) US5853995A (ko)
EP (1) EP1015628B1 (ko)
JP (1) JP4164128B2 (ko)
KR (1) KR100575381B1 (ko)
CN (1) CN1293203C (ko)
AT (1) ATE322555T1 (ko)
AU (1) AU735756B2 (ko)
CA (1) CA2277583C (ko)
DE (1) DE69834127T2 (ko)
IL (1) IL130825A (ko)
NZ (1) NZ336483A (ko)
RU (1) RU2195497C2 (ko)
WO (1) WO1998044155A1 (ko)

Families Citing this family (38)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6844431B1 (en) * 1996-05-08 2005-01-18 Cedars-Sinai Medical Center Nucleic acid encoding spinocerebellar ataxia-2 and products related thereto
US6673535B1 (en) * 1996-05-08 2004-01-06 Cedars-Sinai Medical Center Methods of detecting spinocerebellar Ataxia-2 nucleic acids
JP3950480B2 (ja) * 1996-07-18 2007-08-01 株式会社エスアールエル 脊髄小脳変性症２型の原因遺伝子の検出方法及びそのためのプライマー
US5853995A (en) * 1997-01-07 1998-12-29 Research Development Foundation Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6
WO2000024938A2 (en) * 1998-10-27 2000-05-04 The Johns Hopkins University CCG REPEATS IN cDNAs FROM HUMAN BRAIN
WO2000078943A2 (en) * 1999-06-18 2000-12-28 The Johns Hopkins University EXPANSION OF A NOVEL CAG TRINUCLEOTIDE REPEAT IN THE 5' REGION OF THE PROTEIN PHOSPHATASE 2A PPP2R2Bβ GENE IS ASSOCIATED WITH SCA12
US6255054B1 (en) * 1999-09-09 2001-07-03 Jacques Hugon Polymorphism of the human GluR-5 gene and risk factor for alzheimer disease
US6855497B2 (en) 2000-08-31 2005-02-15 Baylor College Of Medicine DNA test for SCA-10
EP1191097A1 (en) * 2000-09-21 2002-03-27 Leids Universitair Medisch Centrum Induction of exon skipping in eukaryotic cells
JP2004526435A (ja) * 2001-02-07 2004-09-02 ザ ジェネラル ホスピタル コーポレーション 心疾患の診断および治療の方法
KR20030013019A (ko) * 2001-08-06 2003-02-14 주식회사 바이오메드랩 삼핵산 반복서열 증가질환용 진단키트 및 진단장치
US20040067512A1 (en) * 2001-11-09 2004-04-08 Neurogenetics, Inc. Single nucleotide polymorphisms and mutations on Alpha-2-Macroglobulin
AU2002364894A1 (en) * 2001-11-09 2003-06-30 Neurogenetics, Inc. Single nucleotide polymorphisms and mutations on alpha-2-macroglobulin
JP2006513041A (ja) * 2002-12-05 2006-04-20 サーフェクト テクノロジーズ インク． コーティングされた磁性粒子及びその応用
AU2003225410A1 (en) 2003-03-21 2004-10-11 Academisch Ziekenhuis Leiden Modulation of exon recognition in pre-mrna by interfering with the secondary rna structure
FR2856409B1 (fr) * 2003-06-20 2007-08-31 Aventis Pharma Sa Methodes de detection de la maladie d'alzheimer
US7660709B2 (en) * 2004-03-18 2010-02-09 Van Andel Research Institute Bioinformatics research and analysis system and methods associated therewith
KR100727318B1 (ko) 2004-10-15 2007-06-12 사단법인 삼성생명공익재단삼성서울병원 삼핵산 반복서열 증가로 인한 유전성 뇌신경 퇴화질환진단용 디엔에이 칩
JP2008538500A (ja) * 2005-04-22 2008-10-30 アカデミス ツィーケンホイス ライデン ＳＲタンパク質の結合に対する干渉とＲＮＡ二次構造に対する干渉による、ｍＲＮＡ前駆体におけるエクソン認識の調節
WO2007123391A1 (en) * 2006-04-20 2007-11-01 Academisch Ziekenhuis Leiden Therapeutic intervention in a genetic disease in an individual by modifying expression of an aberrantly expressed gene.
EP1857548A1 (en) * 2006-05-19 2007-11-21 Academisch Ziekenhuis Leiden Means and method for inducing exon-skipping
WO2008018795A1 (en) 2006-08-11 2008-02-14 Prosensa Technologies B.V. Methods and means for treating dna repeat instability associated genetic disorders
CN101790385A (zh) * 2007-07-12 2010-07-28 普罗森那技术公司 用于使化合物靶向多种选定器官、组织或肿瘤细胞的分子
WO2009008727A2 (en) * 2007-07-12 2009-01-15 Prosensa Technologies B.V. Molecules for targeting compounds to various selected organs or tissues
PT2203173E (pt) 2007-10-26 2016-03-15 Academisch Ziekenhuis Leiden Resumo
USRE48468E1 (en) 2007-10-26 2021-03-16 Biomarin Technologies B.V. Means and methods for counteracting muscle disorders
CA2714120A1 (en) * 2008-02-08 2009-08-13 Prosensa Holding Bv Methods and means for treating dna repeat instability associated genetic disorders
EP2119783A1 (en) 2008-05-14 2009-11-18 Prosensa Technologies B.V. Method for efficient exon (44) skipping in Duchenne Muscular Dystrophy and associated means
US8025640B2 (en) 2008-06-27 2011-09-27 Tyco Healthcare Group Lp Pressurized surgical valve
CN102459595A (zh) 2009-04-24 2012-05-16 普罗森那技术公司 用于治疗dmd的包含肌苷的寡核苷酸
JP6141018B2 (ja) 2009-12-24 2017-06-07 バイオマリン テクノロジーズ ベー．フェー． 炎症性障害を治療するための分子
CA3120918A1 (en) 2012-01-27 2013-08-01 Biomarin Technologies B.V. Rna modulating oligonucleotides with improved characteristics for the treatment of duchenne and becker muscular dystrophy
WO2015047512A1 (en) * 2013-09-25 2015-04-02 The University Of Chicago Inhibitors of cacna1a/alpha1a subunit internal ribosomal entry site (ires) and methods of treating spinocerebellar ataxia type 6
RU2552913C1 (ru) * 2014-03-25 2015-06-10 Государственное бюджетное образовательное учреждение высшего профессионального образования "Нижегородская государственная медицинская академия" Министерства Здравоохранения Российской Федерации (ГБОУ ВПО НижГМА Минздрава России) Способ диагностики болезни гентингтона
JP7003035B2 (ja) 2015-11-03 2022-02-10 アスラジェン， インコーポレイテッド リピート配列の核酸サイズ検出のための方法
CN105349662A (zh) * 2015-11-27 2016-02-24 首都医科大学宣武医院 检测sca致病基因突变的方法，及其引物、试剂盒
KR102448654B1 (ko) * 2020-10-28 2022-09-28 동아대학교 산학협력단 Pdcd6 유전자의 단형성 또는 다형성 소위성을 이용한 dna 타이핑 키트 및 암 진단용 키트
CN115851915A (zh) * 2022-12-13 2023-03-28 长沙金域医学检验实验室有限公司 检测遗传性共济失调致病基因的引物组及方法

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5834183A (en) 1993-06-29 1998-11-10 Regents Of The University Of Minnesota Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis
US5853995A (en) * 1997-01-07 1998-12-29 Research Development Foundation Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6

Also Published As

Publication number Publication date
JP2001508311A (ja) 2001-06-26
US6303307B1 (en) 2001-10-16
NZ336483A (en) 2001-09-28
DE69834127T2 (de) 2006-10-26
AU6015898A (en) 1998-10-22
DE69834127D1 (de) 2006-05-18
CN1293203C (zh) 2007-01-03
JP4164128B2 (ja) 2008-10-08
IL130825A0 (en) 2001-01-28
EP1015628A4 (en) 2004-10-20
KR20000062427A (ko) 2000-10-25
ATE322555T1 (de) 2006-04-15
CN1251616A (zh) 2000-04-26
RU2195497C2 (ru) 2002-12-27
WO1998044155A1 (en) 1998-10-08
AU735756B2 (en) 2001-07-12
US7329487B2 (en) 2008-02-12
US5853995A (en) 1998-12-29
US20040023277A1 (en) 2004-02-05
KR100575381B1 (ko) 2006-05-03
CA2277583C (en) 2009-04-14
CA2277583A1 (en) 1998-10-08
EP1015628A1 (en) 2000-07-05
EP1015628B1 (en) 2006-04-05

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