CFTR ALLELE DETECTION ASSAYS
The present invention provides compositions and methods for the detection and characterization of mutations associated with cystic fibrosis. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to scree...
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| creator | KWIATKOWSKI, ROBERT, W., JR WIGDAL, SUSAN, S BARTHOLOMAY, CHRISTIAN, T PETERSON, PATRICK JARVIS, NANCY HALL, JEFF, G MAST, ANDREA, L AGARWAL, POONAM ACCOLA, MOLLY HEISLER, LAURA IP, HON, S TEVERE, VINCENT CARROLL, KATHLEEN |
| description | The present invention provides compositions and methods for the detection and characterization of mutations associated with cystic fibrosis. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of any one of a collection of mutations in the CFTR gene associated with cystic fibrosis. The present invention also provides compositions, methods and kits for screening sets of CFTR alleles in a single reaction container.
La présente invention concerne des compositions et des méthodes de détection et de caractérisation de mutations associées à une fibrose cystique. Plus spécifiquement, cette invention a trait à des compositions, des méthodes et des kits d'utilisation de dosages à structure de clivage invasive (par exemple, le dosage INVADER) afin de cribler des échantillons d'acides nucléiques, provenant de patients, à la recherche de la présence d'une mutation quelconque parmi une série de mutations dans le gène CFTR associé à une fibrose cystique. Cette invention a aussi trait à des compositions, des méthodes et des kits de criblage de séries d'allèles de CFRT dans un seul récipient de réaction. |
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La présente invention concerne des compositions et des méthodes de détection et de caractérisation de mutations associées à une fibrose cystique. Plus spécifiquement, cette invention a trait à des compositions, des méthodes et des kits d'utilisation de dosages à structure de clivage invasive (par exemple, le dosage INVADER) afin de cribler des échantillons d'acides nucléiques, provenant de patients, à la recherche de la présence d'une mutation quelconque parmi une série de mutations dans le gène CFTR associé à une fibrose cystique. Cette invention a aussi trait à des compositions, des méthodes et des kits de criblage de séries d'allèles de CFRT dans un seul récipient de réaction.</description><edition>7</edition><language>eng ; fre</language><subject>BEER ; BIOCHEMISTRY ; CHEMISTRY ; COMPOSITIONS OR TEST PAPERS THEREFOR ; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ; DERIVATIVES THEREOF ; ENZYMOLOGY ; INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES ; MEASURING ; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS ; METALLURGY ; MICROBIOLOGY ; MUTATION OR GENETIC ENGINEERING ; NUCLEIC ACIDS ; NUCLEOSIDES ; NUCLEOTIDES ; ORGANIC CHEMISTRY ; PHYSICS ; PROCESSES OF PREPARING SUCH COMPOSITIONS ; SPIRITS ; SUGARS ; TESTING ; VINEGAR ; WINE</subject><creationdate>2005</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20050310&DB=EPODOC&CC=WO&NR=2004046688A3$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,776,881,25543,76293</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20050310&DB=EPODOC&CC=WO&NR=2004046688A3$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>KWIATKOWSKI, ROBERT, W., JR</creatorcontrib><creatorcontrib>WIGDAL, SUSAN, S</creatorcontrib><creatorcontrib>BARTHOLOMAY, CHRISTIAN, T</creatorcontrib><creatorcontrib>PETERSON, PATRICK</creatorcontrib><creatorcontrib>JARVIS, NANCY</creatorcontrib><creatorcontrib>HALL, JEFF, G</creatorcontrib><creatorcontrib>MAST, ANDREA, L</creatorcontrib><creatorcontrib>AGARWAL, POONAM</creatorcontrib><creatorcontrib>ACCOLA, MOLLY</creatorcontrib><creatorcontrib>HEISLER, LAURA</creatorcontrib><creatorcontrib>IP, HON, S</creatorcontrib><creatorcontrib>TEVERE, VINCENT</creatorcontrib><creatorcontrib>CARROLL, KATHLEEN</creatorcontrib><title>CFTR ALLELE DETECTION ASSAYS</title><description>The present invention provides compositions and methods for the detection and characterization of mutations associated with cystic fibrosis. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of any one of a collection of mutations in the CFTR gene associated with cystic fibrosis. The present invention also provides compositions, methods and kits for screening sets of CFTR alleles in a single reaction container.
La présente invention concerne des compositions et des méthodes de détection et de caractérisation de mutations associées à une fibrose cystique. Plus spécifiquement, cette invention a trait à des compositions, des méthodes et des kits d'utilisation de dosages à structure de clivage invasive (par exemple, le dosage INVADER) afin de cribler des échantillons d'acides nucléiques, provenant de patients, à la recherche de la présence d'une mutation quelconque parmi une série de mutations dans le gène CFTR associé à une fibrose cystique. Cette invention a aussi trait à des compositions, des méthodes et des kits de criblage de séries d'allèles de CFRT dans un seul récipient de réaction.</description><subject>BEER</subject><subject>BIOCHEMISTRY</subject><subject>CHEMISTRY</subject><subject>COMPOSITIONS OR TEST PAPERS THEREFOR</subject><subject>CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES</subject><subject>DERIVATIVES THEREOF</subject><subject>ENZYMOLOGY</subject><subject>INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES</subject><subject>MEASURING</subject><subject>MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS</subject><subject>METALLURGY</subject><subject>MICROBIOLOGY</subject><subject>MUTATION OR GENETIC ENGINEERING</subject><subject>NUCLEIC ACIDS</subject><subject>NUCLEOSIDES</subject><subject>NUCLEOTIDES</subject><subject>ORGANIC CHEMISTRY</subject><subject>PHYSICS</subject><subject>PROCESSES OF PREPARING SUCH COMPOSITIONS</subject><subject>SPIRITS</subject><subject>SUGARS</subject><subject>TESTING</subject><subject>VINEGAR</subject><subject>WINE</subject><fulltext>true</fulltext><rsrctype>patent</rsrctype><creationdate>2005</creationdate><recordtype>patent</recordtype><sourceid>EVB</sourceid><recordid>eNrjZJBxdgsJUnD08XH1cVVwcQ1xdQ7x9PdTcAwOdowM5mFgTUvMKU7lhdLcDMpuriHOHrqpBfnxqcUFicmpeakl8eH-RgYGJgYmZmYWFo7GxsSpAgDrsiG0</recordid><startdate>20050310</startdate><enddate>20050310</enddate><creator>KWIATKOWSKI, ROBERT, W., JR</creator><creator>WIGDAL, SUSAN, S</creator><creator>BARTHOLOMAY, CHRISTIAN, T</creator><creator>PETERSON, PATRICK</creator><creator>JARVIS, NANCY</creator><creator>HALL, JEFF, G</creator><creator>MAST, ANDREA, L</creator><creator>AGARWAL, POONAM</creator><creator>ACCOLA, MOLLY</creator><creator>HEISLER, LAURA</creator><creator>IP, HON, S</creator><creator>TEVERE, VINCENT</creator><creator>CARROLL, KATHLEEN</creator><scope>EVB</scope></search><sort><creationdate>20050310</creationdate><title>CFTR ALLELE DETECTION ASSAYS</title><author>KWIATKOWSKI, ROBERT, W., JR ; WIGDAL, SUSAN, S ; BARTHOLOMAY, CHRISTIAN, T ; PETERSON, PATRICK ; JARVIS, NANCY ; HALL, JEFF, G ; MAST, ANDREA, L ; AGARWAL, POONAM ; ACCOLA, MOLLY ; HEISLER, LAURA ; IP, HON, S ; TEVERE, VINCENT ; CARROLL, KATHLEEN</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-epo_espacenet_WO2004046688A33</frbrgroupid><rsrctype>patents</rsrctype><prefilter>patents</prefilter><language>eng ; fre</language><creationdate>2005</creationdate><topic>BEER</topic><topic>BIOCHEMISTRY</topic><topic>CHEMISTRY</topic><topic>COMPOSITIONS OR TEST PAPERS THEREFOR</topic><topic>CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES</topic><topic>DERIVATIVES THEREOF</topic><topic>ENZYMOLOGY</topic><topic>INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES</topic><topic>MEASURING</topic><topic>MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS</topic><topic>METALLURGY</topic><topic>MICROBIOLOGY</topic><topic>MUTATION OR GENETIC ENGINEERING</topic><topic>NUCLEIC ACIDS</topic><topic>NUCLEOSIDES</topic><topic>NUCLEOTIDES</topic><topic>ORGANIC CHEMISTRY</topic><topic>PHYSICS</topic><topic>PROCESSES OF PREPARING SUCH COMPOSITIONS</topic><topic>SPIRITS</topic><topic>SUGARS</topic><topic>TESTING</topic><topic>VINEGAR</topic><topic>WINE</topic><toplevel>online_resources</toplevel><creatorcontrib>KWIATKOWSKI, ROBERT, W., JR</creatorcontrib><creatorcontrib>WIGDAL, SUSAN, S</creatorcontrib><creatorcontrib>BARTHOLOMAY, CHRISTIAN, T</creatorcontrib><creatorcontrib>PETERSON, PATRICK</creatorcontrib><creatorcontrib>JARVIS, NANCY</creatorcontrib><creatorcontrib>HALL, JEFF, G</creatorcontrib><creatorcontrib>MAST, ANDREA, L</creatorcontrib><creatorcontrib>AGARWAL, POONAM</creatorcontrib><creatorcontrib>ACCOLA, MOLLY</creatorcontrib><creatorcontrib>HEISLER, LAURA</creatorcontrib><creatorcontrib>IP, HON, S</creatorcontrib><creatorcontrib>TEVERE, VINCENT</creatorcontrib><creatorcontrib>CARROLL, KATHLEEN</creatorcontrib><collection>esp@cenet</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>KWIATKOWSKI, ROBERT, W., JR</au><au>WIGDAL, SUSAN, S</au><au>BARTHOLOMAY, CHRISTIAN, T</au><au>PETERSON, PATRICK</au><au>JARVIS, NANCY</au><au>HALL, JEFF, G</au><au>MAST, ANDREA, L</au><au>AGARWAL, POONAM</au><au>ACCOLA, MOLLY</au><au>HEISLER, LAURA</au><au>IP, HON, S</au><au>TEVERE, VINCENT</au><au>CARROLL, KATHLEEN</au><format>patent</format><genre>patent</genre><ristype>GEN</ristype><title>CFTR ALLELE DETECTION ASSAYS</title><date>2005-03-10</date><risdate>2005</risdate><abstract>The present invention provides compositions and methods for the detection and characterization of mutations associated with cystic fibrosis. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of any one of a collection of mutations in the CFTR gene associated with cystic fibrosis. The present invention also provides compositions, methods and kits for screening sets of CFTR alleles in a single reaction container.
La présente invention concerne des compositions et des méthodes de détection et de caractérisation de mutations associées à une fibrose cystique. Plus spécifiquement, cette invention a trait à des compositions, des méthodes et des kits d'utilisation de dosages à structure de clivage invasive (par exemple, le dosage INVADER) afin de cribler des échantillons d'acides nucléiques, provenant de patients, à la recherche de la présence d'une mutation quelconque parmi une série de mutations dans le gène CFTR associé à une fibrose cystique. Cette invention a aussi trait à des compositions, des méthodes et des kits de criblage de séries d'allèles de CFRT dans un seul récipient de réaction.</abstract><edition>7</edition><oa>free_for_read</oa></addata></record> |
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| subjects | BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES DERIVATIVES THEREOF ENZYMOLOGY INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES ORGANIC CHEMISTRY PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS SUGARS TESTING VINEGAR WINE |
| title | CFTR ALLELE DETECTION ASSAYS |
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