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CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism. Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T-ARMS-PCR were validated by DNA sequencing. There were 91 samples with the CC genotype (97.8%) and two samples with the CT genotype (2.2%). The frequency of the C allele was 98.9%, and the frequency of the T allele was 1.1%. The DNA sequencing results were completely concordant with the T-ARMS-PCR results. T-ARMS-PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process. © 2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.

Citation

Chenxi Jin, Zhikun Li, Xiaodi Zheng, Kailin Shen, Jiashuo Chao, Yifei Dong, Qin Huang, Qiulin Yin, Yan Deng, Weifeng Zhu. Development and validation of T-ARMS-PCR to detect CYP2C19*17 allele. Journal of clinical laboratory analysis. 2020 Jan;34(1):e23005

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PMID: 31441095

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