Novel mutations in the cytochrome P450 2C19 gene: A pitfall of the PCR-RFLP method for identifying a common mutation

Yumiko Ohkubo, Akihito Ueta, Naoki Ando, Tetsuya Ito, Sachiko Yamaguchi, Kantaro Mizuno, Satoshi Sumi, Tohru Maeda, Daiju Yamazaki, Yukihisa Kurono, Shinji Fujimoto, Hajime Togari

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3 Citations (Scopus)

Abstract

CYP2C19 is a clinically important enzyme involved in the metabolism of therapeutic drugs such as (S)-mephenytoin, omeprazole, proguanil, and diazepam. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM) on the basis of CYP2C19 enzyme activity. The PM phenotype occurs in 2-5% of Caucasian populations, but at higher frequencies (18-23%) in Asians. CYP2C19*2 and CYP2C19*3, which are single-nucleotide polymorphisms of CYP2C19, are the main cause of PM phenotyping in homozygotes or compound heterozygotes. We report two novel mutations in the CYP2C19 gene identified by direct sequencing and subcloning procedures. One of these mutations was considered to be CYP2C19*3 by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). This result suggests that mutations classed as CYP2C19*3 might include other mutations. Further studies are needed to clarify the relationship between these novel mutations and enzyme activity.

Original languageEnglish
Pages (from-to)118-123
Number of pages6
JournalJournal of Human Genetics
Volume51
Issue number2
DOIs
Publication statusPublished - 01-02-2006
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Ohkubo, Y., Ueta, A., Ando, N., Ito, T., Yamaguchi, S., Mizuno, K., Sumi, S., Maeda, T., Yamazaki, D., Kurono, Y., Fujimoto, S., & Togari, H. (2006). Novel mutations in the cytochrome P450 2C19 gene: A pitfall of the PCR-RFLP method for identifying a common mutation. Journal of Human Genetics, 51(2), 118-123. https://doi.org/10.1007/s10038-005-0332-y