ARMS test for diagnosis of CYP2C9 and VKORC1 mutation in patients with pulmonary embolism in Han Chinese. (January 2010)

• Record Type: Journal Article
• Authors: Zhu, Jin; Zhang, Weijuan; Li, Yanyan; Zhang, Wei; Wang, Heyao; Zheng, Wenjie; Wang, Chen
• Is Part Of: Pharmacogenomics. Volume 11:Number 1(2010)
• Page Start: 113
• Page End: 119
• Publication Date: 2010-01
• Subjects: ARMS -- Chinese -- CYP2C9 -- SNP -- thromboembolic -- VKORC1 -- warfarin; Pharmacogenomics -- Periodicals; 615.1
• DOI: 10.2217/pgs.09.138
• Languages: English
• ISSNs: 1462-2416

Abstract

Aims: VKORC1 and CYP2C9 are important genetic factors affecting warfarin dose requirement. Our aim is to establish a simple, rapid and economical method to detect SNPs in the two genes.Materials & methods: Primer Premier 5 was used and a normal primer, a mutational primer and a common primer have been designed using the amplification refractory mutation system for VKORC1 c.-1639G>A (rs9923231), CYP2C9*3 c.1075A>C (rs1057910) and CYP2C9*13 c.269T>C substitutions. The amplification refractory mutation system (ARMS) assay was validated by the restriction enzyme cleavage method of reference or direct sequencing.Results: The ARMS primers designed can distinguish between heterozygotes and homozygotes successfully. In the Han Chinese population, patients with pulmonary embolism allele frequencies of CYP2C9*3 c.1075A>C (rs1057910), *13 c.269T>C and VKORC1 -1639G>A (rs9923231) are 4.3, 0.7 and 8.6%, respectively.Conclusion: The ARMS-PCR method is a simple, economical method that can be used for the rapid detection of SNPs in VKORC1 and CYP2C9 .