Compositions and methods for detecting noonan syndrome

Details Compositions and methods for detecting noonan syndrome Compositions and methods for detecting noonan syndrome

C - Chemistry, Metallurgy

12

N

C12N 9/12 (2006.01) A61K 31/7105 (2006.01) A61K 39/395 (2006.01) A61K 45/00 (2006.01) C07K 14/47 (2006.01) C12N 15/12 (2006.01) C12N 15/54 (2006.01) C12Q 1/48 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2669384

Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOSl or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAFl or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAFl or SOSl, and variants thereof, as well as host cells expressing such variants.

L'invention concerne des applications diagnostiques et thérapeutiques pour le syndrome de Noonan. Les applications diagnostiques et thérapeutiques sont fondées sur certaines mutations dans un gène SOSl du facteur d'échange nucléotidique de guanine spécifique de RAS ou son produit d'expression. Les applications diagnostiques et thérapeutiques sont également fondées sur certaines mutations dans un gène RAFl de protéines kinase de sérine/thréonine ou son produit d'expression. On décrit également des séquences nucléotidiques, des séquences d'acides aminés, des sondes, et des amorces associées à RAFl ou SOSl, et leurs variantes, ainsi que des cellules hôtes exprimant de telles variantes.

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