Open AccessDevelopment and validation of T‐ARMS‐PCR to detect CYP2C19*17 allele
Author(s) -
Jin Chenxi,
Li Zhikun,
Zheng Xiaodi,
Shen Kailin,
Chao Jiashuo,
Dong Yifei,
Huang Qin,
Yin Qiulin,
Deng Yan,
Zhu Weifeng
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23005
Subject(s) - cyp2c19 , genotype , single nucleotide polymorphism , polymerase chain reaction , allele , microbiology and biotechnology , biology , primer (cosmetics) , genetics , allele frequency , snp , polymorphism (computer science) , gene , chemistry , organic chemistry
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.