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1. (WO2014198049) SYNJ1 GENE MUTATION AND APPLICATION THEREOF
Latest bibliographic data on file with the International Bureau   

Pub. No.: WO/2014/198049 International Application No.: PCT/CN2013/077207
Publication Date: 18.12.2014 International Filing Date: 13.06.2013
IPC:
C07H 21/04 (2006.01) ,C07K 14/435 (2006.01) ,C12Q 1/68 (2006.01)
Applicants: BGI GENOMICS CO., LTD.[CN/CN]; Floors 7-14, Building No.7, BGI Park No.21 Hong'an 3rd Street, Yantian District Shenzhen, Guangdong 518083, CN
ERASMUS UNIVERSITY MEDICAL CENTER ROTTERDAM[NL/NL]; s-Gravendijkwal 230 NL-3015 CE Rotterdam, NL
Inventors: FANG, Mingyan; CN
WU, Bin; CN
XU, Fengping; CN
WANG, Jun; CN
QUADRI, Marialuisa; NL
OLGIATI, Simone; NL
BREEDVELD, Guido J; NL
BARONE, Paolo; NL
BONIFATI, Vincenzo; NL
Agent: TSINGYIHUA INTELLECTUAL PROPERTY LLC; Room 301 Trade Building, Zhaolanyuan Tsinghua University, Qinghuayuan, Haidian District Beijing 100084, CN
Priority Data:
Title (EN) SYNJ1 GENE MUTATION AND APPLICATION THEREOF
(FR) MUTANT DU GÈNE SYNJ1 ET SON APPLICATION
(ZH) SYNJ1基因突变体及其应用
Abstract:
(EN) Provided are an SYNJ1 gene mutation and application thereof, in particular relating to a separated nucleic acid for coding an SYNJ1 gene mutation, a separated polypeptide, and a method, a system and a kit for screening a biological sample for susceptibility to early-onset Parkinson's disease, as well as a construct and a recombinant cell. Compared with SEQ ID NO: 1, the separated nucleic acid for coding the SYNJ1 gene mutation has a c.773G>A mutation.
(FR) L'invention concerne un mutant du gène SYNJ1 et son application, et en particulier un acide nucléique isolé destiné à coder pour un mutant du gène SYNJ1, un polypeptide isolé, un procédé, un système et un kit pour la détection facile, dans un échantillon biologique, de l'apparition précoce de la maladie de Parkinson ; l'invention concerne également une construction et une cellule recombinante. Par rapport à la SEQ ID nº 1, l'acide nucléique isolé codant pour le mutant du gène SYNJ1 comprend une mutation c.773G>A.
(ZH) 提供了SYNJ1基因突变体及其应用,具体涉及分离的编码SYNJ1突变体的核酸,分离的多肽,筛选易患早发性帕金森病的生物样品的方法,筛选易患早发性帕金森病的生物样品的系统,用于筛选易患早发性帕金森病的生物样品的试剂盒,以及构建体和重组细胞。其中,该分离的编码SYNJ1突变体的核酸,与SEQ ID NO:1相比,具有c.773G>A突变。
Designated States: 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, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, 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, 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
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: Chinese (ZH)
Filing Language: Chinese (ZH)