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1. (WO2004003136) METHODS OF DETECTING SEQUENCE DIFFERENCES
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/2004/003136 International Application No.: PCT/US2003/019576
Publication Date: 08.01.2004 International Filing Date: 20.06.2003
Chapter 2 Demand Filed: 26.01.2004
IPC:
C07H 21/04 (2006.01) ,C12N 15/09 (2006.01) ,C12P 19/34 (2006.01) ,C12Q 1/68 (2006.01) ,G01N 21/78 (2006.01) ,G01N 27/447 (2006.01)
C CHEMISTRY; METALLURGY
07
ORGANIC CHEMISTRY
H
SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21
Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
04
with deoxyribosyl as saccharide radical
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15
Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09
Recombinant DNA-technology
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
P
FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIRED CHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERS FROM A RACEMIC MIXTURE
19
Preparation of compounds containing saccharide radicals
26
Preparation of nitrogen-containing carbohydrates
28
N-glycosides
30
Nucleotides
34
Polynucleotides, e.g. nucleic acids, oligoribonucleotides
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
G PHYSICS
01
MEASURING; TESTING
N
INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
21
Investigating or analysing materials by the use of optical means, i.e. using infra-red, visible, or ultra-violet light
75
Systems in which material is subjected to a chemical reaction, the progress or the result of the reaction being investigated
77
by observing the effect on a chemical indicator
78
producing a change of colour
G PHYSICS
01
MEASURING; TESTING
N
INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
27
Investigating or analysing materials by the use of electric, electro-chemical, or magnetic means
26
by investigating electrochemical variables; by using electrolysis or electrophoresis
416
Systems
447
using electrophoresis
Applicants:
SENTION, INC. [US/US]; One Richmond Square, 3rd Floor Providence, RI 02906, US (AllExceptUS)
SLEPNEV, Vladimir, I. [RU/US]; US (UsOnly)
Inventors:
SLEPNEV, Vladimir, I.; US
Agent:
WILLIAMS, Kathleen, M.; Palmer & Dodge LLP 111 Huntingon Avenue Boston, MA 02199-7613, US
Priority Data:
60/392,33128.06.2002US
Title (EN) METHODS OF DETECTING SEQUENCE DIFFERENCES
(FR) METHODES DE DETECTION DE POLYMORPHISMES GENETIQUES
Abstract:
(EN) The invention relates to methods of genotyping single nucleotide differences in a nucleic acid sample. More particularly, the invention provides methods of identifying the nucleotide at a polymorphic site or a group of polymorphic sites in a sample of genomic DNA. The method uses tagged primer extension in which a set of tag sequences correspond to the identity of the nucleotides at the polymorphic sites. Primer extension products are PCR amplified using a common set of tag-specific primers, the downstream primers bearing distinguishable labels. Following separation by size and/or charge, the detection of distinguishable label in a product of the anticipated size determines the identity of the nucleotide at the polymorphic site. The method is well-suited for the genotyping of multiple single-nucleotide differences in one series of reactions.
(FR) L'invention concerne des méthodes de génotypage de polymorphismes de nucléotides simples dans un échantillon d'acide nucléique. L'invention concerne plus particulièrement des méthodes permettant d'identifier le nucléotide au niveau d'un site polymorphe ou d'un groupe de sites polymorphes dans un échantillon d'ADN génomique. Cette méthode utilise une extension d'amorce marquée dans laquelle une série de séquences de marquage correspondent à l'identité des nucléotides au niveau des sites polymorphes. Les produits d'extension d'amorce sont amplifiés par PCR à l'aide d'une série commune d'amorces spécifiques à un marqueur, les amorces aval comportant des marqueurs reconnaissables. Après la séparation par taille et/ou par charge, la détection de marqueurs reconnaissables dans un produit de taille prédéterminée indique l'identité du nucléotide au niveau du site polymorphe. La méthode de l'invention est particulièrement adaptée pour le génotypage de plusieurs polymorphismes de nucléotides simples dans une série de réactions.
Designated States: AE, AG, AL, AM, AT, AU, AZ, BA, BB, BG, BR, BY, BZ, CA, CH, CN, CO, CR, CU, CZ, DE, DK, DM, DZ, EC, EE, 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, NI, NO, NZ, OM, PH, PL, PT, RO, RU, SC, SD, SE, SG, SK, SL, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, YU, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (GH, GM, KE, LS, MW, MZ, 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, IT, LU, MC, NL, 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)
Also published as:
KR1020050034651EP1534859JP2005531314JP4617403CN1665938CA2490864
AU2003243700AU2009200987