Methods for identifying a factor v gene mutation

Details Methods for identifying a factor v gene mutation Methods for identifying a factor v gene mutation

C - Chemistry, Metallurgy

12

Q

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

Patent

CA 2216239

A method for identifying a Factor V gene mutation resulting in activated protein C resistance comprising detecting in a nucleic acid sample isolated from a human the presence of a genetic mutation characterized as a change from a guanine nucleotide to an adenine nucleotide at nucleotide postion 205 in exon 10 of the Factor V gene that is associated with replacement of arginine 506 by glutamine, thereby identifying said mutation.

La présente invention décrit une méthode d'identification d'une mutation de gènes de facteur V induisant une résistance à la protéine C activée, qui consiste à détecter dans un échantillon d'acide nucléique isolé provenant d'un humain une mutation génétique caractérisée comme étant une transformation d'une guanine en un adénine en position nucléotidique 205 dans l'exon 10 du gène de Facteur V qui est associé au remplacement de l'arginine 506 par de la glutamine, et à identifier ainsi ladite mutation.

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