BRPI0406683A - Método e dispositivo para a detecção de mutações em sequências de gene isoladas do receptor de lipoproteìna de baixa densidade (ldl-r) que está associada com a hipercolesterolemia familiar - Google Patents

Método e dispositivo para a detecção de mutações em sequências de gene isoladas do receptor de lipoproteìna de baixa densidade (ldl-r) que está associada com a hipercolesterolemia familiar

Info

Publication number
BRPI0406683A
BRPI0406683A BR0406683-9A BRPI0406683A BRPI0406683A BR PI0406683 A BRPI0406683 A BR PI0406683A BR PI0406683 A BRPI0406683 A BR PI0406683A BR PI0406683 A BRPI0406683 A BR PI0406683A
Authority
BR
Brazil
Prior art keywords
mutations
low density
density lipoprotein
ldl
analysis
Prior art date
Application number
BR0406683-9A
Other languages
English (en)
Inventor
Pedro Mata Lopez
Rodrigo Alberto Alonso Karlezi
Pilar Mozas Alonso
Gilberto Reyes Leal
Miguel Pocovi Mieras
Sergio Castillo Fernandez
Diego Tejedor Hernandez
Antonio Martinez Martinez
Miguel Mallen Perez
Original Assignee
Lacer Sa
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 Lacer Sa filed Critical Lacer Sa
Publication of BRPI0406683A publication Critical patent/BRPI0406683A/pt

Links

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
    • C12Q2600/156—Polymorphic or mutational 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)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)

Abstract

"MéTODO E DISPOSITIVO PARA A DETECçãO DE MUTAçõES EM SEQuêNCIAS DE GENE ISOLADAS DO RECEPTOR DE LIPOPROTEìNA DE BAIXA DENSIDADE (LDL-R) QUE ESTá ASSOCIADA COM A HIPERCOLESTEROLEMIA FAMILIAR". A invenção refere-se a métodos extracorpóreos de analisar a presença ou ausência de mutações que causam a hipercolesterolemia familiar. Os métodos da invenção descrevem o meio no qual as referidas mutações podem ser detectadas empregando-se uma mostra de DNA de um indivíduo e compreendendo o seguinte: reação de cadeia da polimerase com iniciadores que são complementares ao gene receptor de lipoproteína de baixa densidade; análise do produto amplificado por seq³enciamento: análise de restrição; técnicas de polimorfismo de conformação de filamento único; análise heterodúplex e análise de um dispositivo sobre o topo de um suporte de vidro de biochip sobre o qual as sondas de oligonucleotídeo são dispostas, as quais podem ser empregadas para detectar as mutações anteriormente mencionadas no DNA.
BR0406683-9A 2003-01-28 2004-01-21 Método e dispositivo para a detecção de mutações em sequências de gene isoladas do receptor de lipoproteìna de baixa densidade (ldl-r) que está associada com a hipercolesterolemia familiar BRPI0406683A (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
ES200300206 2003-01-28
ES200302671 2003-11-17
PCT/ES2004/070001 WO2004067740A1 (es) 2003-01-28 2004-01-21 Procedimiento y dispositivo de detección de mutaciones en secuencias génicas aisladas del receptor de lipoproteínas de baja densidad (ldl-r) asociado con la hipercolesterolemia familiar

Publications (1)

Publication Number Publication Date
BRPI0406683A true BRPI0406683A (pt) 2005-12-20

Family

ID=32826889

Family Applications (1)

Application Number Title Priority Date Filing Date
BR0406683-9A BRPI0406683A (pt) 2003-01-28 2004-01-21 Método e dispositivo para a detecção de mutações em sequências de gene isoladas do receptor de lipoproteìna de baixa densidade (ldl-r) que está associada com a hipercolesterolemia familiar

Country Status (10)

Country Link
US (1) US8669049B1 (pt)
EP (1) EP1589104B1 (pt)
JP (1) JP2006515762A (pt)
AU (1) AU2004207187B2 (pt)
BR (1) BRPI0406683A (pt)
CA (1) CA2514631C (pt)
ES (1) ES2493865T3 (pt)
MX (1) MXPA05007958A (pt)
RU (1) RU2005127057A (pt)
WO (1) WO2004067740A1 (pt)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8153363B2 (en) 2005-01-13 2012-04-10 Progenika Biopharma S.A. Methods and products for in vitro genotyping
JP2012080835A (ja) * 2010-10-13 2012-04-26 Kanazawa Univ 家族性高コレステロール血症の検査方法
JP6099120B2 (ja) * 2011-06-13 2017-03-22 国立大学法人金沢大学 家族性高コレステロール血症の迅速遺伝子解析方法及び該方法に使用するプライマーセット
SG11201602503TA (en) 2013-10-03 2016-04-28 Moderna Therapeutics Inc Polynucleotides encoding low density lipoprotein receptor
CN105586394A (zh) * 2014-11-17 2016-05-18 武汉白原科技有限公司 一种评估基因对人体低密度脂蛋白影响的检测试剂盒和方法
CN107699568B (zh) * 2017-10-31 2019-01-04 华中科技大学 Ldlr基因突变体及其应用

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
EP0269260A3 (en) 1986-10-29 1988-06-22 Biotechnology Research Partners, Ltd. Apoai-ciii-aiv, apoaii apob, apoci, and ldl receptor polymorphisms for genetic fingerprinting and predictive of atherosclerosis
US6582908B2 (en) * 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
JPH1099099A (ja) 1996-09-27 1998-04-21 S R L:Kk ヒトｌｄｌレセプター遺伝子異常の診断方法並びにそれに用いられるプローブ及びオリゴヌクレオチドプライマー
US20040101863A1 (en) * 2000-07-18 2004-05-27 Hiroaki Hattori Method of detecting lipid metabolic errors

Also Published As

Publication number Publication date
AU2004207187B2 (en) 2009-01-08
CA2514631A1 (en) 2004-08-12
EP1589104B1 (en) 2014-06-18
AU2004207187A1 (en) 2004-08-12
US8669049B1 (en) 2014-03-11
WO2004067740A1 (es) 2004-08-12
EP1589104A1 (en) 2005-10-26
ES2493865T3 (es) 2014-09-12
CA2514631C (en) 2013-05-14
JP2006515762A (ja) 2006-06-08
MXPA05007958A (es) 2006-03-08
RU2005127057A (ru) 2006-03-10

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