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
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WO
WIPO (PCT)
Prior art keywords
compositions
methods
familial hypercholesterolemia
diagnosing familial
diagnosing
Prior art date
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
Original Assignee
Infovalley® Group Of Companies
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® Group Of Companies filed Critical Infovalley® Group Of Companies
Publication of WO2013043041A2 publication Critical patent/WO2013043041A2/en
Publication of WO2013043041A3 publication Critical patent/WO2013043041A3/en

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    • 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

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  • 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 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 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 (3)

* 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 Method for designing hypercholesteremia virulence gene screening probe and gene chip 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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