Patent SG-11201806493P-A (SG)
Title: Determination of mtrnr1 gene mutation
Inventor: ZU YANBING
IPC: C12Q1/68
Filed: 2017-02-09
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2017/142478 Al 24 August 2017 (24.08.2017) WIPO I PCT 111111111111110111011111111111010111110111010111110101111111111110111111111110111111 (51) International Patent Classification: C12Q 1/68 (2006.01) (21) International Application Number: PCT/SG2017/050057 (22) International Filing Date: 9 February 2017 (09.02.2017) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 10201601165V 17 February 2016 (17.02.2016) SG (71) Applicant: AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH [SG/SG]; 1 Fusionopolis Way, #20-10 Connexis, Singapore 138632 (SG). (72) Inventors: ZU, Yanbing; c/o Institute of Bioengineering and Nanotechnology, 31 Biopolis Way, Singapore 138669 (SG). YING, Jackie Y.; c/o Institute of Bioengineering and Nanotechnology, 31 Biopolis Way, Singapore 138669 (SG). (74) Agent: VIERING, JENTSCHURA & PARTNER LLP; P.O. Box 1088, Rochor Post Office, Rochor Road, Singa- pore 911833 (SG). (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, [Continued on next page] (54) Title: DETERMINATION OF MTRNR1 GENE MUTATION W O 20 1714247 / 8 Al Figure 1 (a) 60 WT probe n n 55 • n • • E 50 n A A • 45 n WT target ¨ MUT target 40 10 100 1000 [Target] (nM) (57) : The invention relates to methods and kits for determining the presence of a mutation selected from the group consisting of 1555A>G and 1494C>T in human Mito - chondrially Encoded 12S RNA (MTRNR1 ) gene in a sample from a subject, comprising, inter alia, amplifying at least part of the MTRNR1 gene and detecting the amplified DNA with a plasmonic gold nanoparticle covalently coupled to a mor- pholino oligonucleotide probe. The claimed method may be used for determining the risk of a subject to Aminoglycos - ide-induced hearing loss. WO 2017/142478 Al 1#11101M01101DEIROIDEOM01011111010111111111101110110111111 LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, Published: SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). with international search report (Art. 21(3)) with sequence listing part of description (Rule 5.2(a))