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WO2013043041A3 - Methods and compositions for diagnosing familial hypercholesterolemia - Google Patents

Methods and compositions for diagnosing familial hypercholesterolemia Download PDF

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Publication number
WO2013043041A3
WO2013043041A3 PCT/MY2012/000253 MY2012000253W WO2013043041A3 WO 2013043041 A3 WO2013043041 A3 WO 2013043041A3 MY 2012000253 W MY2012000253 W MY 2012000253W WO 2013043041 A3 WO2013043041 A3 WO 2013043041A3
Authority
WO
WIPO (PCT)
Prior art keywords
compositions
methods
familial hypercholesterolemia
diagnosing familial
diagnosing
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.)
Ceased
Application number
PCT/MY2012/000253
Other languages
French (fr)
Other versions
WO2013043041A2 (en
Inventor
Mathavan A CHANDRAN
Parmod G BAGALI
Livy ALEX
Jagdish Kaur CHAHIL
Say Hean LYE
Lian Wee LER
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.)
Infovalley(r) Group Of Cos
Original Assignee
Infovalley(r) Group Of Cos
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 Infovalley(r) Group Of Cos filed Critical Infovalley(r) Group Of Cos
Publication of WO2013043041A2 publication Critical patent/WO2013043041A2/en
Publication of WO2013043041A3 publication Critical patent/WO2013043041A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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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
    • C12Q2600/156—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)

Abstract

A method for diagnosing Familial Hypercholesterolemia (FH) and/or predisposition to FH in an individual of Asian descent, the method comprising detecting the presence of at least one single nucleotide polymorphism (SNP) in a sample of the individual.
PCT/MY2012/000253 2011-09-21 2012-09-21 Methods and compositions for diagnosing familial hypercholesterolemia Ceased WO2013043041A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
MYPI2011004478 2011-09-21
MYPI2011004478 2011-09-21

Publications (2)

Publication Number Publication Date
WO2013043041A2 WO2013043041A2 (en) 2013-03-28
WO2013043041A3 true WO2013043041A3 (en) 2013-08-01

Family

ID=47915056

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/MY2012/000253 Ceased WO2013043041A2 (en) 2011-09-21 2012-09-21 Methods and compositions for diagnosing familial hypercholesterolemia

Country Status (1)

Country Link
WO (1) WO2013043041A2 (en)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201308313D0 (en) * 2013-05-09 2013-06-19 Medical Res Council Assay Method
CN104263723B (en) * 2014-09-15 2017-06-06 南京医科大学 A kind of low frequency related to primary lung cancer auxiliary diagnosis penetrance genetic marker high and its application
CN110592185A (en) * 2018-12-25 2019-12-20 首都医科大学附属北京安贞医院 A hypercholesterolemia disease-causing gene screening probe design method and its gene chip
KR20230057410A (en) 2020-08-25 2023-04-28 리제너론 파마슈티칼스 인코포레이티드 Treatment of sepsis using PCSK9 and LDLR modulators
KR102776123B1 (en) * 2021-12-29 2025-03-04 주식회사 테라젠헬스 Single-nucleotide polymorphic biomarkers for predicting hyperlipidemia risk according to eating habits and use thereof

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20040019005A1 (en) * 2001-10-01 2004-01-29 Jeffrey Van Ness Methods for parallel measurement of genetic variations
US20040248177A1 (en) * 2003-04-25 2004-12-09 Marianne Abi Fadel Human hypercholesterolemia causal gene and use thereof

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20040019005A1 (en) * 2001-10-01 2004-01-29 Jeffrey Van Ness Methods for parallel measurement of genetic variations
US20040248177A1 (en) * 2003-04-25 2004-12-09 Marianne Abi Fadel Human hypercholesterolemia causal gene and use thereof

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
ALEX LIVY ET AL.: "Familial hypercholesterolemia in Asia: a review", JOURNAL OMICS RESEARCH, vol. 1, no. 1, 27 October 2011 (2011-10-27), pages 22 - 31, XP055081782 *
AL-KHATEEB A. ET AL.: "Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia", BMC MEDICAL GENETICS, vol. 12, no. 40, 19 March 2011 (2011-03-19), pages 1 - 11, XP021096524 *
LIVY ALEX ET AL.: "Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population", JOURNAL OF HUMAN GENETICS, vol. 57, 26 April 2012 (2012-04-26), pages 358 - 362 *

Also Published As

Publication number Publication date
WO2013043041A2 (en) 2013-03-28

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