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1. (WO2005066362) HAPLOTYPES AND POLYMORPHISMS LINKED TO HUMAN THIOPURINE S-METHYLTRANSFERASE DEFICIENCIES
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2005/066362    International Application No.:    PCT/EP2005/000064
Publication Date: 21.07.2005 International Filing Date: 07.01.2005
IPC:
C12N 9/10 (2006.01), C12Q 1/68 (2006.01)
Applicants: BAYER HEALTHCARE LLC [US/US]; 511 Benedict Avenue, Tarrytown, NY 10591 (US) (For All Designated States Except US).
STROPP, Udo [DE/DE]; (DE) (For US Only)
Inventors: STROPP, Udo; (DE)
Agent: BURKERT, Frank; Bayer HealthCare AG, Law and Patents, Patents and Licensing, 51368 Leverkusen (DE)
Priority Data:
04000398.0 10.01.2004 EP
Title (EN) HAPLOTYPES AND POLYMORPHISMS LINKED TO HUMAN THIOPURINE S-METHYLTRANSFERASE DEFICIENCIES
(FR) HAPLOTYPES ET POLYMORPHISMES LIES A DES CARENCES EN THIOPURINE S-METHYLTRANSFERASE HUMAINE
Abstract: front page image
(EN)Haplotypes and polymorphisms of thiopurine S-methyltransferase (TPMT) are described that are linked to TPMT deficiencies which can cause potentially fatal toxicity when patients are treated with thiopurines like mercaptopurine, azathioprine, or thioguanine. The mutant alleles as well as PCR fragments, kits and methods for assaying the TPMT genotype of individual patients are disclosed. Furthermore, algorithms are disclosed that combine the genotypes of a set of single nucleotide polymorphisms to haplotypes that give a distinct information about the TPMT phenotype.
(FR)La présente invention concerne des haplotypes et des polymorphismes de thiopurine S-méthyltransférase (TPMT) qui sont liés à des carences en TPMT pouvant impliquer une toxicité potentiellement mortelle lorsque des patients sont traités avec des thiopurines telles que de la mercaptopurine, de l'azathioprine ou de la thioguanine. La présente invention concerne les allèles mutants, fragments PCR, kits et procédés permettant de doser le génotype de TPMT chez des patients individuels. En outre, cette invention concerne des algorithmes qui combinent les génotypes d'un ensemble de polymorphismes nucléotidiques uniques à des haplotypes qui donnent une information distincte concernant le phénotype de TPMT.
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, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MA, MD, MG, MK, MN, MW, MX, MZ, NA, 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, 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: English (EN)