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1. (WO2006011716) DIAGNOSIS METHOD AND KITS FOR INHERITED NEUROPATHIES CAUSED BY DUPLICATION OR DELETION OF CHROMOSOME 17P11.2-P12 REGION
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2006/011716    International Application No.:    PCT/KR2005/002170
Publication Date: 02.02.2006 International Filing Date: 06.07.2005
IPC:
C12Q 1/68 (2006.01)
Applicants: KONGJU NATIONAL UNIVERSITY INDUSTRY ACADEMIA COOPERATION GROUP [KR/KR]; Sanhak Research Hall 104-ho, Kongju, National University, 182 Sinkwan-dong, Kongju-si, Chungcheongnam-do, 314-701 (KR) (For All Designated States Except US).
CHOI, Byung Ok [KR/KR]; (KR).
CHUNG, Ki Wha [KR/KR]; (KR) (For US Only)
Inventors: CHOI, Byung Ok; (KR).
CHUNG, Ki Wha; (KR)
Agent: YOU, Byung Sun; 610 Mannyun Officetel, 241 Walpyung-dong, Seo-gu, Daejeon, 302-282 (KR)
Priority Data:
10-2004-0052652 07.07.2004 KR
Title (EN) DIAGNOSIS METHOD AND KITS FOR INHERITED NEUROPATHIES CAUSED BY DUPLICATION OR DELETION OF CHROMOSOME 17P11.2-P12 REGION
(FR) METHODE ET KITS DE DIAGNOSTIC DE NEUROPATHIES HEREDITAIRES PROVOQUEES PAR DUPLICATION OU DELETION DE LA REGION DU CHROMOSOME 17P11.2-P12
Abstract: front page image
(EN)Disclosed herein are a method and kit for diagnosing hereditary diseases CMTlA and HNPP, caused by duplicatino and deletion in the chromosome 17pl 1.2-pl2 region. In accordance with the present invention, there is provided a method for diagnosing an inherited neuropathy, comprising, runnung the PCR amplification using microsatellites present in a chromosome 17pl 1.2-pl2 region as markers and DNA typing the resulting PCR amplification products to determine the presence of duplication and deletion in the corresponding chromosomal region, wherein Multiplex PCR amplification is carried out using 6 loci of D17S921, D17S9B, D17S9A, D17S918, D17S2230 and D17S4A as markers, and DNA-typing of the resulting PCR amplification products is carried out to determine duplication and deletion in the corresponding chromosomal region. In accordance with the method of the present invention, the diagnosis accuracy of detecting duplication and deletion in the chromosome 17pl 1.2-pl2 region is greater than 99.9%.
(FR)L'invention porte sur une méthode et sur un kit de diagnostic de maladies héréditaires CMT1A et HNPP provoquées par duplication et délétion de la région du chromosome 17p11.2-p12. Selon cette invention, le procédé de diagnostic d'une neuropathie héréditaire consiste à effectuer l'amplification PCR au moyen de microsatellites présents dans une région du chromosome et utiles comme marqueurs et procéder au typage de l'ADN des produits d'amplification PCR obtenus afin de déterminer la présence de duplication et de délétion dans la région chromosomale correspondante. L'amplification PCR multiplex est effectuée à l'aide de 6 loci de D17S921, D17S9B, D17S9A, D17S918, D17S2230 et D17S4A utiles comme marqueurs et le typage de l'ADN des produits d'amplification PCR obtenus est effectué afin de déterminer la duplication et la délétion dans la région chromosomale correspondante. Selon la méthode de cette invention, la précision de diagnostic de détection de la duplication et de la délétion dans la région du chromosome 17p11.2-p12 est supérieure à 99,9 %.
Designated States: AE, AG, AL, AM, AT, AU, AZ, BA, BB, BG, BR, BW, BY, BZ, CA, CH, CN, CO, CR, CU, CZ, DE, DK, DM, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, HR, HU, ID, IL, IN, IS, JP, KE, KG, KM, KP, KZ, LC, LK, LR, LS, LT, LU, LV, MA, MD, MG, MK, MN, MW, MX, MZ, NA, NG, NI, NO, NZ, OM, PG, PH, PL, PT, RO, RU, SC, SD, SE, SG, SK, SL, SM, SY, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, YU, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HU, IE, IS, IT, LT, LU, LV, MC, NL, PL, PT, RO, SE, SI, SK, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: Korean (KO)