ena-STUDY-Beijing Hospital-25-10-2020-08:19:33:913-210
a novel mutation was found and we want to confirm the sequence of it and explore the funtional change due to it.
During a retrospective study, we analyzed the cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 genes among 120 patients taking warfarin. A new coding variant was identified by sequencing CYP2C9. a patient taking high-dose warfarin in order to achieve the target international normalized ratio was found to have a mutation in the CYP2C9 gene.  We confirmed the novel mutation by resequencing and performed the functional experiment of the variant in vitro. cDNA of the novel variant was constructed by site-directed mutagenesis and the recombinant protein was expressed in vitro using a baculovirus–expression system. Its enzymatic activities toward probe drugs for CYP2C9 were then assessed.
During a retrospective study, we analyzed the cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 genes among 120 patients taking warfarin. A new coding variant was identified by sequencing CYP2C9. a patient taking high-dose warfarin in order to achieve the target international normalized ratio was found to have a mutation in the CYP2C9 gene.  We confirmed the novel mutation by resequencing and performed the functional experiment of the variant in vitro. cDNA of the novel variant was constructed by site-directed mutagenesis and the recombinant protein was expressed in vitro using a baculovirus–expression system. Its enzymatic activities toward probe drugs for CYP2C9 were then assessed.