Title:
METHOD FOR DETECTING COPY NUMBER OF CELL CHROMOSOME OR PART THEREOF
Document Type and Number:
WIPO Patent Application WO/2021/200749
Kind Code:
A1
Abstract:
The method of the present invention is for detecting the copy number of a cell chromosome or a part thereof. In this method, genomic DNA isolated from cells is subjected to digital PCR without performing whole genome amplification. In the digital PCR, fragmented genomic DNA is diluted by limiting dilution and introduced into individual digital PCR droplets. The droplets contain probes (30b) (hereinafter referred to as target probes) capable of forming hybrids with a chromosome or a part thereof that is the target for detecting chromosomal abnormality (hereinafter referred to as the target region). The target probes consist of a plurality of kinds of probes that form hybrids respectively at a plurality of sites on the target region and that emit fluorescence of the same color. Then, droplets emitting the fluorescence of the target probes are counted.
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Inventors:
YAMANAKA HIROAKI (JP)
KUBO TOMOHIRO (JP)
KUBO TOMOHIRO (JP)
Application Number:
PCT/JP2021/013119
Publication Date:
October 07, 2021
Filing Date:
March 26, 2021
Export Citation:
Assignee:
TL GENOMICS INC (JP)
International Classes:
C12N15/09; C12Q1/6851; C12Q1/686
Domestic Patent References:
| WO2018123220A1 | 2018-07-05 |
Foreign References:
| US20140134613A1 | 2014-05-15 | |||
| JP2020000011A | 2020-01-09 |
Other References:
FITARELLI KIEHL MARIANA, YU FANGYAN, ASHTAPUTRE RAVINA, LEONG KA, LADAS IOANNIS, SUPPLEE JULIANNA, PAWELETZ CLOUD, MITRA DEVARATI,: "Denaturation-enhanced droplet digital PCR for liquid biopsies", CLINICAL CHEMISTRY, vol. 64, no. 12, 1 December 2018 (2018-12-01), pages 1762 - 1771, XP009536934, ISSN: 0097-4005, DOI: 10.1373/clinchem.2018.293845
SATO TAISUKE, ITO YUKI, SAMURA OSAMU, AOKI HIROAKI, UCHIYAMA TORU, OKAMOTO AIKOU, HATA KENICHIRO: "Direct Assessment of Single-Cell DNA Using Crudely Purified Live Cells: A Proof of Concept for Noninvasive Prenatal Definitive Diagnosis", JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 22, no. 2, 1 February 2020 (2020-02-01), pages 132 - 140, XP009536932, ISSN: 1525-1578, DOI: 10.1016/j.jmoldx.2019.10.006
SATO TAISUKE, ITO YUKI, SAMURA OSAMU, AOKI HIROAKI, UCHIYAMA TORU, OKAMOTO AIKOU, HATA KENICHIRO: "Direct Assessment of Single-Cell DNA Using Crudely Purified Live Cells: A Proof of Concept for Noninvasive Prenatal Definitive Diagnosis", JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 22, no. 2, 1 February 2020 (2020-02-01), pages 132 - 140, XP009536932, ISSN: 1525-1578, DOI: 10.1016/j.jmoldx.2019.10.006
Attorney, Agent or Firm:
IEIRI Takeshi (JP)
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