Methods for detecting mutations in jak2 nucleic acid

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12N 9/12 (2006.01) C12N 15/54 (2006.01) C12Q 1/48 (2006.01)

Patent

CA 2649732

The present invention relates to methods for detecting JAK2 nucleic acid in acellular bodily fluid samples from patients with neoplastic disease and determining if the nucleic acid contains one or more mutations or one mutation and one deletion. The methods are useful for diagnosing patients that have cells with mutations in the JAK2 gene that effect kinase activity. The detection of such mutations can be used to determine treatment for patients or stratifying patients for therapy and management.

La présente invention concerne des procédés permettant de détecter l'acide nucléique de JAK2 dans des échantillons de fluides corporels acellulaires prélevés chez des patients atteints d'une maladie néoplasique et de déterminer si cet acide nucléique contient une ou plusieurs mutations ou bien une mutation et une suppression. Les procédés sont utiles dans le diagnostic de patients présentant des cellules avec des mutations du gène JAK2 qui se traduisent par une activité de kinase. La détection de ces mutations peut être utilisée pour définir le traitement des patients ou pour classer les patients en vue de la thérapie et de la prise en charge.

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