Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele

Background 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 re...

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Veröffentlicht in:Journal of clinical laboratory analysis 2020-01, Vol.34 (1), p.e23005-n/a
Hauptverfasser: Jin, Chenxi, Li, Zhikun, Zheng, Xiaodi, Shen, Kailin, Chao, Jiashuo, Dong, Yifei, Huang, Qin, Yin, Qiulin, Deng, Yan, Zhu, Weifeng
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Sprache:eng
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Zusammenfassung:Background 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. Methods 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. Results 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. Conclusion T‐ARMS‐PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process.
ISSN:0887-8013
1098-2825
DOI:10.1002/jcla.23005