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1. (WO2012170725) MATERIALS AND METHOD FOR IDENTIFYING SPINAL MUSCULAR ATROPHY CARRIERS
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/2012/170725 International Application No.: PCT/US2012/041406
Publication Date: 13.12.2012 International Filing Date: 07.06.2012
IPC:
C12Q 1/68 (2006.01)
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
68
involving nucleic acids
Applicants:
ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI [US/US]; One Gustave L. Levy Place Box 1675 New York, NY 10029-6574, US (AllExceptUS)
EDELMANN, Lisa [US/US]; US (UsOnly)
DESNICK, Robert, J. [US/US]; US (UsOnly)
Inventors:
EDELMANN, Lisa; US
DESNICK, Robert, J.; US
Agent:
MERKEL, William, K.; Marshall, Gerstein & Borun LLP 233 S. Wacker Drive 6300 Willis Tower Chicago, IL 60606-6357, US
Priority Data:
61/494,28207.06.2011US
Title (EN) MATERIALS AND METHOD FOR IDENTIFYING SPINAL MUSCULAR ATROPHY CARRIERS
(FR) MATÉRIELS ET MÉTHODE POUR L'IDENTIFICATION DE VECTEURS D'AMYOTROPHIE SPINALE
Abstract:
(EN) Materials and methods for identifying carriers of genetic determinants of spinal muscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium are associated as markers of spinal muscular atrophy alleles detectable by various techniques, including multiplex ligation-dependent probe analysis, sequence analysis, and RFLP detection. The materials and methods of the disclosure are particularly useful in identifying silent (2+0) carriers of spinal muscular atrophy in which two copies of the SMNl gene are located on a single human chromosome 5 and no copies of the gene are located on the chromosome 5 homolog.
(FR) L'invention concerne des matériels et méthodes pour l'identification de vecteurs de déterminants génétiques d'une amyotrophie spinale. En particulier, l'invention concerne des polymorphismes en déséquilibre de liaison qui sont associés en tant que marqueurs d'allèles d'amyotrophie spinale détectables par diverses techniques, comprenant une analyse de sonde dépendante d'une ligature multiplexe, une analyse de séquence et une détection de RFLP. Les matériels et méthodes de l'invention sont particulièrement utiles dans l'identification de vecteurs silencieux (2+0) d'une amyotrophie spinale où deux copies du gène SMN1 sont localisées sur un chromosome 5 humain unique et aucune copie du gène n'est localisée sur l'homologue du chromosome 5.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, 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, KM, 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, 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 Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (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, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)
Also published as:
US20140199695EP2718466IL249396IL229825ES2698114