ARMS test for diagnosis of CYP2C9 and VKORC1 mutation in patients with pulmonary embolism in Han Chinese

被引：6

作者：

Zhu, Jin ^{[1
]}

Zhang, Weijuan ^{[1
]}

Li, Yanyan ^{[1
]}

Zhang, Wei ^{[1
]}

Wang, Heyao ^{[1
]}

Zheng, Wenjie ^{[2
]}

Wang, Chen ^{[1
]}

机构：

[1] Beijing Capital Med Univ, Beijing Chao Yang Hosp, Beijing 100020, MA, Peoples R China

[2] Beijing Inst Technol, Beijing 100081, Peoples R China

来源：

PHARMACOGENOMICS | 2010年 / 11卷 / 01期

关键词：

ARMS; Chinese; CYP2C9; SNP; thromboembolic; VKORC1; warfarin; WARFARIN DOSE REQUIREMENTS; DNA-REPLICATION; ACTIVE-SITE; POLYMORPHISMS; SENSITIVITY; GENES; PHARMACOGENOMICS; ASSOCIATION; METABOLISM; GENOTYPES;

D O I：

10.2217/PGS.09.138

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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.

引用

页码：113 / 119

页数：7

共 30 条

[1] Rapid Single-Nucleotide Polymorphism Detection of Cytochrome P450 (CYP2C9) and Vitamin K Epoxide Reductase (VKORC1) Genes for the Warfarin Dose Adjustment by the SMart-Amplification Process Version 2 [J].