ARMS test for Diagnosis of CYP2C9 and VKORC1 Mutation in Patients with Pulmonary Embolism in Han Chinese

Jin Zhu1 Beijing Chao-Yang Hospital affiliated with Beijing Capital Medical University, 8 Gongtinanlu Street, Beijing, MA100020, China. Tel.: +86 108 523 1788 Fax: +86 108 523 [email protected]

Weijuan Zhang1 Beijing Chao-Yang Hospital affiliated with Beijing Capital Medical University, 8 Gongtinanlu Street, Beijing, MA100020, China. Tel.: +86 108 523 1788 Fax: +86 108 523 [email protected]

Yanyan Li1 Beijing Chao-Yang Hospital affiliated with Beijing Capital Medical University, 8 Gongtinanlu Street, Beijing, MA100020, China. Tel.: +86 108 523 1788 Fax: +86 108 523 [email protected]

Wei Zhang1 Beijing Chao-Yang Hospital affiliated with Beijing Capital Medical University, 8 Gongtinanlu Street, Beijing, MA100020, China. Tel.: +86 108 523 1788 Fax: +86 108 523 [email protected]

Heyao Wang1 Beijing Chao-Yang Hospital affiliated with Beijing Capital Medical University, 8 Gongtinanlu Street, Beijing, MA100020, China. Tel.: +86 108 523 1788 Fax: +86 108 523 [email protected]

Wenjie Zheng2 Beijing Institute of Technology, Beijing, China

Chen Wang1 Beijing Chao-Yang Hospital affiliated with Beijing Capital Medical University, 8 Gongtinanlu Street, Beijing, MA100020, China. Tel.: +86 108 523 1788 Fax: +86 108 523 [email protected]

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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.

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Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

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ARMS test for Diagnosis of CYP2C9 and VKORC1 Mutation in Patients with Pulmonary Embolism in Han Chinese

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ARMS test for Diagnosis of CYP2C9 and VKORC1 Mutation in Patients with Pulmonary Embolism in Han Chinese

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