C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C12P 19/34 (2006.01)
Patent
CA 2179012
A two-pronged method for diagnosis of genetic diseases can detect mutations in about 87 % of familial adenomatous polyposis (FAP) patients. One part of the diagnosis method employs in vitro protein synthesis from surrogate genes created by amplifying either cDNA or genomic DNA. The second part of the diagnostic method employs an allele-specific expression assay which distinguishes the amount of mRNA expressed in vivo from each of a patient's two alleles. These approaches are readily applicable to the diagnosis of other genetic diseases.
La présente invention concerne un procédé de diagnostic en deux branches d'affections génétiques permettant de déceler les mutations chez environ 87 % des patients atteints de polypose adénomateuse héréditaire. La première branche du diagnostic utilise la synthèse in vitro de protéines issues d'une mutagenèse inverse et créées par amplification, soit de l'ADN complémentaire, soit de l'ADN génomique. La seconde branche utilise le dosage d'une expression spécifique d'allèle distinguant la quantité d'ARN messager exprimée in vivo de chacune des deux allèles du patient. Ces deux approches sont déjà applicables au diagnostic d'autres affections génétiques.
Kinzler Kenneth W.
Vogelstein Bert
Sim & Mcburney
The Johns Hopkins University
LandOfFree
Molecular diagnosis of familial adenomatous polyposis does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Molecular diagnosis of familial adenomatous polyposis, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Molecular diagnosis of familial adenomatous polyposis will most certainly appreciate the feedback.
Profile ID: LFCA-PAI-O-1763671