C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C12N 9/02 (2006.01)
Patent
CA 2373061
Methods of diagnosing primary congenital glaucoma, by detecting particular mutations in a human cytochrome P4501B1 (CYP1B1) gene, are disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of a mutant nucleic acid probe to the CYP1B1 gene; direct mutation analysis by restriction digest; sequencing of the CYP1B1 gene; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of the presence of mutant proteins encoded by the CYP1B1 gene.
L'invention concerne des procédés relatifs au diagnostic du glaucome primitif congénital, reposant sur la détection de mutations particulières dans un gène P4501B1 (CYP1B1) cytochrome humain. Les étapes du diagnostic sont les suivantes: analyse d'hybridation, du type Southern ou Northern, faisant appel à l'hybridation d'une sonde d'acide nucléique mutant sur le gène CYP1B1; analyse de mutation directe par produit de digestion par des enzymes de restriction; séquençage du gène CYP1B1; hybridation d'un olignucléotide spécifique aux allèles avec ADN génomique amplifié; ou identification de la présence de protéines mutantes codées par le gène CYP1B1.
Ogilvy Renault Llp/s.e.n.c.r.l.,s.r.l.
University Of Connecticut
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