NL8520436A - Werkwijzen en samenstellingen voor de opsporing van familiale hypercholesterolemie. - Google Patents

Werkwijzen en samenstellingen voor de opsporing van familiale hypercholesterolemie. Download PDF

Info

Publication number
NL8520436A
NL8520436A NL8520436A NL8520436A NL8520436A NL 8520436 A NL8520436 A NL 8520436A NL 8520436 A NL8520436 A NL 8520436A NL 8520436 A NL8520436 A NL 8520436A NL 8520436 A NL8520436 A NL 8520436A
Authority
NL
Netherlands
Prior art keywords
dna
dna sequence
further defined
ldl receptor
hybridizable portion
Prior art date
Application number
NL8520436A
Other languages
English (en)
Dutch (nl)
Original Assignee
Univ Texas
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 Univ Texas filed Critical Univ Texas
Publication of NL8520436A publication Critical patent/NL8520436A/nl

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • 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
    • 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
    • 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
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/566—Immunoassay; Biospecific binding assay; Materials therefor using specific carrier or receptor proteins as ligand binding reagents where possible specific carrier or receptor proteins are classified with their target compounds
    • 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
    • G01N33/92—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving lipids, e.g. cholesterol, lipoproteins, or their receptors
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G01N2800/044—Hyperlipemia or hypolipemia, e.g. dyslipidaemia, obesity
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S435/00—Chemistry: molecular biology and microbiology
    • Y10S435/803—Physical recovery methods, e.g. chromatography, grinding
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S436/00—Chemistry: analytical and immunological testing
    • Y10S436/811—Test for named disease, body condition or organ function
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S530/00—Chemistry: natural resins or derivatives; peptides or proteins; lignins or reaction products thereof
    • Y10S530/808—Materials and products related to genetic engineering or hybrid or fused cell technology, e.g. hybridoma, monoclonal products
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S530/00—Chemistry: natural resins or derivatives; peptides or proteins; lignins or reaction products thereof
    • Y10S530/82—Proteins from microorganisms
    • Y10S530/825—Bacteria

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Genetics & Genomics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Pathology (AREA)
  • Cell Biology (AREA)
  • General Physics & Mathematics (AREA)
  • Food Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Endocrinology (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
NL8520436A 1984-12-28 1985-12-16 Werkwijzen en samenstellingen voor de opsporing van familiale hypercholesterolemie. NL8520436A (nl)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US06/687,087 US4745060A (en) 1984-12-28 1984-12-28 Methods and compositions for the detection of Familial Hypercholesterolemia
US68708784 1984-12-28
PCT/US1985/002461 WO1986004090A1 (en) 1984-12-28 1985-12-16 Methods and compositions for the detection of familial hypercholesterolemia
US8502461 1985-12-16

Publications (1)

Publication Number Publication Date
NL8520436A true NL8520436A (nl) 1986-11-03

Family

ID=24758985

Family Applications (1)

Application Number Title Priority Date Filing Date
NL8520436A NL8520436A (nl) 1984-12-28 1985-12-16 Werkwijzen en samenstellingen voor de opsporing van familiale hypercholesterolemie.

Country Status (15)

Country Link
US (2) US4745060A (da)
EP (1) EP0205574A1 (da)
JP (1) JPS62501327A (da)
AU (1) AU5306586A (da)
BR (1) BR8507148A (da)
CH (1) CH671776A5 (da)
DE (1) DE3590702T1 (da)
DK (1) DK409286D0 (da)
FI (1) FI863474A0 (da)
GB (1) GB2178743B (da)
HU (1) HUT41838A (da)
NL (1) NL8520436A (da)
NO (1) NO863438D0 (da)
SE (1) SE8603591D0 (da)
WO (1) WO1986004090A1 (da)

Families Citing this family (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4683194A (en) * 1984-05-29 1987-07-28 Cetus Corporation Method for detection of polymorphic restriction sites and nucleic acid sequences
US4745060A (en) * 1984-12-28 1988-05-17 Board Of Regents, The University Of Texas System Methods and compositions for the detection of Familial Hypercholesterolemia
AU593151B2 (en) * 1986-11-12 1990-02-01 Molecular Diagnostics, Inc. Method for the detection of nucleic acid hybrids
US5256545A (en) * 1987-03-30 1993-10-26 Board Of Regents, The University Of Texas System Sterol Regulatory Elements
CA1320461C (en) * 1988-02-04 1993-07-20 Tatsuya Takano Monoclonal antibody capable of recognizing human arteriosclerosis and process for preparing same
EP0358977A1 (en) * 1988-08-23 1990-03-21 The General Hospital Corporation Cloned nephritis antigen
US5208144A (en) * 1988-08-23 1993-05-04 The General Hospital Corporation Method for detection of human dna containing the gene encoding low density lipoprotein receptor
US5183738A (en) * 1988-09-29 1993-02-02 Japan Immuno Research Laboratories Co., Ltd. Kit for the detection of denatured lipoproteins
US5496926A (en) 1992-01-19 1996-03-05 Yeda Research And Development Co. Ltd. Process of preparing a soluble LDL receptor
EP0613498A1 (de) * 1992-07-08 1994-09-07 BOEHRINGER INGELHEIM INTERNATIONAL GmbH Rezeptorderivate mit bindungsstellen für humane rhinoviren
EP0586094A1 (en) * 1992-08-03 1994-03-09 Wisconsin Alumni Research Foundation Soluble LDL receptor and gene
US5756294A (en) * 1995-09-25 1998-05-26 Oncormed, Inc. Susceptibility mutation for breast and ovarian cancer
US6183963B1 (en) * 1998-10-23 2001-02-06 Signalgene Detection of CYP1A1, CYP3A4, CYP2D6 and NAT2 variants by PCR-allele-specific oligonucleotide (ASO) assay
CA2416533A1 (en) * 2000-07-18 2003-01-15 Bml, Inc. Method of detecting lipid metabolic errors
KR100443503B1 (ko) * 2000-12-01 2004-08-09 주식회사디엔에이링크 가족성 고콜레스테롤혈증을 유발하는 인간 저밀도 지단백질 수용체 유전자의 돌연변이체, 이의 검출 방법 및 이 방법에 유용한 프라이머
AU2003230619A1 (en) * 2002-03-08 2003-09-22 Naxcor Compositions and methods for detecting nucleic acid methylation
US8669049B1 (en) 2003-01-28 2014-03-11 Progenika Biopharma, S.A. Method and device for the detection of mutations in isolated gene sequences of the low-density lipoprotein receptor (LDL-r) which is associated with familial hypercholesterolemia
WO2006067254A2 (es) * 2004-12-21 2006-06-29 Lacer, S.A. MÉTODO Y DISPOSITIVO IN VITRO DE DIAGNÓSTICO DE LA HIPERCOLESTEROLEMIA FAMILIAR BASADO EN LA DETECCIÓN DE MUTACIONES EN LA SECUENCIA DEL GEN DEL RECEPTOR DE LIPOPROTEÍNAS DE BAJA DENSIDAD (r-LDL)
US20080109354A1 (en) * 2006-10-04 2008-05-08 Kenneth Baker Account management
CN101565472B (zh) * 2009-05-19 2011-05-04 常州强力电子新材料有限公司 酮肟酯类光引发剂
US9862829B2 (en) 2014-07-23 2018-01-09 Indian Oil Corporation Limited Hybrid modified bitumen composition and process of preparation thereof

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4358535A (en) * 1980-12-08 1982-11-09 Board Of Regents Of The University Of Washington Specific DNA probes in diagnostic microbiology
US4395486A (en) * 1981-08-19 1983-07-26 Medical College Of Ga. Research Inst., Inc. Method for the direct analysis of sickle cell anemia
IL71505A0 (en) * 1983-04-14 1984-07-31 Hughes Howard Med Inst Phenylalanine hydroxylase cdna clones,their production and their use in the diagnosis of classical phenylketonuria
US4745060A (en) * 1984-12-28 1988-05-17 Board Of Regents, The University Of Texas System Methods and compositions for the detection of Familial Hypercholesterolemia

Also Published As

Publication number Publication date
DE3590702T1 (da) 1987-07-16
FI863474A (fi) 1986-08-27
NO863438L (no) 1986-08-27
WO1986004090A1 (en) 1986-07-17
EP0205574A1 (en) 1986-12-30
GB2178743B (en) 1989-08-02
NO863438D0 (no) 1986-08-27
DK409286A (da) 1986-08-28
SE8603591L (sv) 1986-08-26
US4966837A (en) 1990-10-30
US4745060A (en) 1988-05-17
CH671776A5 (da) 1989-09-29
SE8603591D0 (sv) 1986-08-26
JPS62501327A (ja) 1987-06-04
DK409286D0 (da) 1986-08-28
HUT41838A (en) 1987-05-28
GB2178743A (en) 1987-02-18
AU5306586A (en) 1986-07-29
FI863474A0 (fi) 1986-08-27
BR8507148A (pt) 1987-03-31
GB8620715D0 (en) 1986-10-08

Similar Documents

Publication Publication Date Title
NL8520436A (nl) Werkwijzen en samenstellingen voor de opsporing van familiale hypercholesterolemie.
Yen et al. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for XY interchange
Spreyer et al. Regeneration‐associated high level expression of apolipoprotein D mRNA in endoneurial fibroblasts of peripheral nerve.
JP3051894B2 (ja) ヒト網膜芽腫ポリペプチドに対する抗体及び網膜芽腫ポリペプチドの検出方法
Frydman et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
Eiberg et al. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
Kirchgessner et al. Genetic and developmental regulation of the lipoprotein lipase gene: loci both distal and proximal to the lipoprotein lipase structural gene control enzyme expression
Lusis et al. Cloning and expression of apolipoprotein B, the major protein of low and very low density lipoproteins.
Koivisto et al. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
Humphries et al. A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis
Johnson et al. Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
EP0494193B1 (en) Diagnosis for malignant hyperthermia
US5227292A (en) Neurofibromatosis type 1 gene
Ando et al. A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy
Skretting et al. An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
EP0786005B1 (en) Compositions for treatment of coronary artery diseases using gene therapy.
US5217865A (en) Screening for Tay-Sachs disease with cloned DNA for beta-hexosaminidase
CA1301095C (en) Human che type proteins and their production
JPH05211897A (ja) ヌクレオチド配列
CA2158791C (en) Dna sequences encoding the machado-joseph disease gene and uses thereof
Ishimitsu et al. Chromosomal sublocalization and microsatellite DNA polymorphism of human adrenomedullin gene
CA1280378C (en) Methods and compositions for the detection of familial hypercholesterolemia
EP0287509B1 (en) Diagnosing obesity caused by a genetic abnormality and method of therapeutically treating genetically caused obesity
Breslow Molecular genetics of lipoprotein disorders.
Haneda et al. Low frequency of the large insertion in the human insulin gene in Japanese