Cftr allele detection assays

Details Cftr allele detection assays Cftr allele detection assays

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07H 21/04 (2006.01)

Patent

CA 2505758

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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