WO2022255952A3 - Method of detecting a repeat expansion sequence - Google Patents

Method of detecting a repeat expansion sequence Download PDF

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Publication number
WO2022255952A3
WO2022255952A3 PCT/SG2022/050380 SG2022050380W WO2022255952A3 WO 2022255952 A3 WO2022255952 A3 WO 2022255952A3 SG 2022050380 W SG2022050380 W SG 2022050380W WO 2022255952 A3 WO2022255952 A3 WO 2022255952A3
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WO
WIPO (PCT)
Prior art keywords
sequence
gene
target sequence
genes
detecting
Prior art date
Application number
PCT/SG2022/050380
Other languages
French (fr)
Other versions
WO2022255952A2 (en
Inventor
Siong-Chuan Samuel Chong
Guat Lay Caroline Lee
Sijia Furene WANG
Timing LIU
Siew Hong CHEAH
Mulias Ya Hui LIAN
Original Assignee
National University Of Singapore
National University Hospital (Singapore) Pte Ltd
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.)
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Publication date
Application filed by National University Of Singapore, National University Hospital (Singapore) Pte Ltd filed Critical National University Of Singapore
Publication of WO2022255952A2 publication Critical patent/WO2022255952A2/en
Publication of WO2022255952A3 publication Critical patent/WO2022255952A3/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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions

Abstract

The present disclosure relates, inter alia, a method of detecting the presence or absence of a repeat expansion sequence in two or more genes in a nucleic acid sample obtained from a subject, the method comprising i) contacting the nucleic acid sample for each of the two or more genes with a) a gene-specific primer that binds to a distinct target sequence of a respective gene wherein the gene comprises a nucleotide repeat sequence and wherein the distinct target sequence is upstream or downstream of the nucleotide repeat sequence, and b) a common primer that binds to a common target sequence that is shared by the two or more genes, wherein the common target sequence is located within the nucleotide repeat sequence and on the opposite strand that is bound by the gene-specific primer; and ii) analyzing the amplification products.
PCT/SG2022/050380 2021-06-02 2022-06-02 Method of detecting a repeat expansion sequence WO2022255952A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
SG10202105851T 2021-06-02
SG10202105851T 2021-06-02

Publications (2)

Publication Number Publication Date
WO2022255952A2 WO2022255952A2 (en) 2022-12-08
WO2022255952A3 true WO2022255952A3 (en) 2023-01-12

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PCT/SG2022/050380 WO2022255952A2 (en) 2021-06-02 2022-06-02 Method of detecting a repeat expansion sequence

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WO (1) WO2022255952A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN116103388B (en) * 2022-12-23 2024-01-23 北京大学第三医院（北京大学第三临床医学院） Kit, system and method for detecting ATXN3 gene of embryo before implantation

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2011046518A1 (en) * 2009-10-16 2011-04-21 National University Of Singapore Screening method for trinucleotide repeat sequences

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2011046518A1 (en) * 2009-10-16 2011-04-21 National University Of Singapore Screening method for trinucleotide repeat sequences

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
K. USDIN: "The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases", GENOME RESEARCH, COLD SPRING HARBOR LABORATORY PRESS, US, vol. 18, no. 7, 1 July 2008 (2008-07-01), US , pages 1011 - 1019, XP055235788, ISSN: 1088-9051, DOI: 10.1101/gr.070409.107 *
LIAN MULIAS, LIMWONGSE CHANIN, YOON CHUI-SHEUN, LEE CAROLINE G, LAW HAI-YANG, CHONG SAMUEL S: "Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias", CLINICAL CHEMISTRY, OXFORD UNIVERSITY PRESS, US, vol. 68, no. 6, 1 June 2022 (2022-06-01), US , pages 794 - 802, XP093024391, ISSN: 0009-9147, DOI: 10.1093/clinchem/hvac011 *
LIAN MULIAS, ZHAO MINGJUE, PHANG GUI-PING, SOONG YUN-TING, YOON CHUI-SHEUN, LEE CAROLINE G., LAW HAI-YANG, CHONG SAMUEL S.: "Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis", THE JOURNAL OF MOLECULAR DIAGNOSTICS, AMERICAN SOCIETY FOR INVESTIGATIVE PATHOLOGY AND THE ASSOCIATION FOR MOLECULAR PATHOLOGY, vol. 23, no. 5, 1 May 2021 (2021-05-01), pages 565 - 576, XP093024385, ISSN: 1525-1578, DOI: 10.1016/j.jmoldx.2021.01.012 *
LIU TIMING, WANG FURENE S., CHEAH FELICIA S.H., GU YANGHONG, SHAW MARIE, LAW HAI-YANG, TAY STACEY K.H., LEE CAROLINE G., NELSON DA: "Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR", THE JOURNAL OF MOLECULAR DIAGNOSTICS, AMERICAN SOCIETY FOR INVESTIGATIVE PATHOLOGY AND THE ASSOCIATION FOR MOLECULAR PATHOLOGY, vol. 23, no. 8, 1 August 2021 (2021-08-01), pages 941 - 951, XP093024389, ISSN: 1525-1578, DOI: 10.1016/j.jmoldx.2021.04.015 *
PAULA JORGE;BÁRBARA OLIVEIRA;ISABEL MARQUES;ROSÁRIO SANTOS : "Development and validation of a multiplex-PCR assay for X-linked intellectual disability", BMC MEDICAL GENETICS, BIOMED CENTRAL, LONDON, GB, vol. 14, no. 1, 5 August 2013 (2013-08-05), GB , pages 80, XP021158901, ISSN: 1471-2350, DOI: 10.1186/1471-2350-14-80 *

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Publication number Publication date
WO2022255952A2 (en) 2022-12-08

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