US 12,442,041 B2
Epigenetic biomarker composition for diagnosing Down syndrome, and use thereof
Hyun Mee Ryu, Seongnam-si (KR); and Ji Hyae Lim, Seongnam-si (KR)
Assigned to SUNGKWANG MEDICAL FOUNDATION, Seoul (KR)
Appl. No. 18/003,658
Filed by SUNGKWANG MEDICAL FOUNDATION, Seoul (KR)
PCT Filed May 7, 2021, PCT No. PCT/KR2021/005716
§ 371(c)(1), (2) Date Dec. 28, 2022,
PCT Pub. No. WO2022/005009, PCT Pub. Date Jan. 6, 2022.
Claims priority of application No. 10-2020-0081684 (KR), filed on Jul. 2, 2020.
Prior Publication US 2024/0026451 A1, Jan. 25, 2024
This patent is subject to a terminal disclaimer.
Int. Cl. C12Q 1/6883 (2018.01); C12Q 1/6806 (2018.01); C12Q 1/6874 (2018.01)
CPC C12Q 1/6883 (2013.01) [C12Q 1/6874 (2013.01); C12Q 1/6806 (2013.01); C12Q 2600/154 (2013.01)] 1 Claim
 
1. A kit for diagnosing Down syndrome, the kit comprising:
(i) a substrate comprising (a) immobilized probes that specifically hybridize to at least one SHROOM1 location selected from the group consisting of chr5: 132158665-132158747 and chr5:132158969-132158984 with respect to the UCSC hg19 reference genome, and (b) immobilized probes that hybridize to a quantitative control gene,
wherein the substrate is coated with an active group selected from the group consisting of amino-silane, poly-L-lysine, and aldehyde, and the substrate is at least one selected from the group consisting of slide glass, plastic, metal, silicon, nylon membrane, and nitrocellulose membrane;
(ii) at least one methylation specific restriction enzyme; and
(iii) one or more primer sets for amplifying at least one SHROOM1 location selected from the group consisting of chr5-132158665-132158747 and chr5-132158969-132158984 with respect to the UCSC hg19 reference genome.