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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Bibliographische Detailangaben
Hauptverfasser:	PETERSON PATRICK, AGARWAL POONAM, BARTHOLOMAY CHRISTIAN T, KWIATKOWSKI ROBERT W.JR, CARROLL KATHLEEN, JARVIS NANCY, HALL JEFF G, ROEVEN ROBERT, ACCOLA MOLLY, MAST ANDREA L, WIGDAL SUSAN S, IP HON S, TEVERE VINCENT
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES DERIVATIVES THEREOF ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES ORGANIC CHEMISTRY PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS SUGARS VINEGAR WINE
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Beschreibung
Zusammenfassung:	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.