Title:
POINT MUTATION RATE DETECTION METHOD
Document Type and Number:
WIPO Patent Application WO/2024/062603
Kind Code:
A1
Abstract:
Provided is a point mutation rate detection method capable of conducting quantitative examination. The point mutation rate detection method according to the present invention is used for multiplex ligation-dependent probe amplification (MLPA) measurement, the method involving a measurement step for measuring, among strength SMT of a mutation-derived signal, which is a fluorescent signal emitted from a mutation site of a sample, and strength SWT of a wild-derived signal, which is a fluorescent signal emitted from a site other than the mutation site of the sample, at least the SMT using an electrophoresis device, and a rate calculation step for calculating the rate of the SMT to a strength reference value greater than the SMT, wherein the upper limit of the measurement dynamic range for a fluorescent signal of the electrophoresis device is equal to or greater than a predetermined value.
Inventors:
KATO HIROKAZU (JP)
SUMIDA NORIYUKI (JP)
MIYAZAKI MITSUHIRO (JP)
YAMAZAKI MOTOHIRO (JP)
SUMIDA NORIYUKI (JP)
MIYAZAKI MITSUHIRO (JP)
YAMAZAKI MOTOHIRO (JP)
Application Number:
PCT/JP2022/035397
Publication Date:
March 28, 2024
Filing Date:
September 22, 2022
Export Citation:
Assignee:
HITACHI HIGH TECH CORP (JP)
International Classes:
C12N15/09; C12Q1/6844
Domestic Patent References:
| WO2001061033A2 | 2001-08-23 |
Foreign References:
| JP2012507306A | 2012-03-29 |
Other References:
ANAZAWA TAKASHI, MATSUNAGA HIROKO, YAMAMOTO SHUHEI, INABA RYOJI: "Highly sensitive mutation quantification by high-dynamic-range capillary-array electrophoresis (HiDy CE)", LAB ON A CHIP, ROYAL SOCIETY OF CHEMISTRY, UK, vol. 20, no. 6, 17 March 2020 (2020-03-17), UK , pages 1083 - 1091, XP093149967, ISSN: 1473-0197, DOI: 10.1039/C9LC00853E
SCHOUTEN JAN P; MCELGUNN CATHAL J; WAAIJER RAYMOND; ZWIJNENBURG DANNY; DIEPVENS FILIP; PALS GERARD: "Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, GB, vol. 30, no. 12, 15 June 2002 (2002-06-15), GB , XP009145839, ISSN: 1362-4962, DOI: 10.1093/nar/gnf056
BUNYAN D J, ECCLES D M, SILLIBOURNE J, WILKINS E, THOMAS N SIMON, SHEA-SIMONDS J, DUNCAN P J, CURTIS C E, ROBINSON D O, HARVEY J F: "Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification", BRITISH JOURNAL OF CANCER, NATURE PUBLISHING GROUP UK, LONDON, vol. 91, no. 6, 1 September 2004 (2004-09-01), London, pages 1155 - 1159, XP093149971, ISSN: 0007-0920, DOI: 10.1038/sj.bjc.6602121
KOOLEN, D. A. ET AL.: "Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)", J MED GENET, vol. 41, 2004, pages 892 - 899
MIREIA GAUSACHS, PILAR MUR, JULIETA CORRAL, MARTA PINEDA, SARA GONZáLEZ, LLúCIA BENITO, MIREIA MENéNDEZ, JOSEP ALFO: "MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study", EUROPEAN JOURNAL OF HUMAN GENETICS, KARGER, BASEL, CH, vol. 20, no. 7, 1 July 2012 (2012-07-01), CH , pages 762 - 768, XP055462534, ISSN: 1018-4813, DOI: 10.1038/ejhg.2011.277
SCHOUTEN JAN P; MCELGUNN CATHAL J; WAAIJER RAYMOND; ZWIJNENBURG DANNY; DIEPVENS FILIP; PALS GERARD: "Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, GB, vol. 30, no. 12, 15 June 2002 (2002-06-15), GB , XP009145839, ISSN: 1362-4962, DOI: 10.1093/nar/gnf056
BUNYAN D J, ECCLES D M, SILLIBOURNE J, WILKINS E, THOMAS N SIMON, SHEA-SIMONDS J, DUNCAN P J, CURTIS C E, ROBINSON D O, HARVEY J F: "Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification", BRITISH JOURNAL OF CANCER, NATURE PUBLISHING GROUP UK, LONDON, vol. 91, no. 6, 1 September 2004 (2004-09-01), London, pages 1155 - 1159, XP093149971, ISSN: 0007-0920, DOI: 10.1038/sj.bjc.6602121
KOOLEN, D. A. ET AL.: "Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)", J MED GENET, vol. 41, 2004, pages 892 - 899
MIREIA GAUSACHS, PILAR MUR, JULIETA CORRAL, MARTA PINEDA, SARA GONZáLEZ, LLúCIA BENITO, MIREIA MENéNDEZ, JOSEP ALFO: "MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study", EUROPEAN JOURNAL OF HUMAN GENETICS, KARGER, BASEL, CH, vol. 20, no. 7, 1 July 2012 (2012-07-01), CH , pages 762 - 768, XP055462534, ISSN: 1018-4813, DOI: 10.1038/ejhg.2011.277
Attorney, Agent or Firm:
ISONO INTERNATIONAL PATENT OFFICE, P.C. (JP)
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