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

Research output: Contribution to journalArticle

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

Fingerprint

Restriction Fragment Length Polymorphisms
Cytochrome P-450 Enzyme System
Polymerase Chain Reaction
Mutation
Genes
Enzymes
Mephenytoin
Proguanil
Omeprazole
Cytochrome P-450 CYP2C19
Homozygote
Heterozygote
Diazepam
Single Nucleotide Polymorphism
Phenotype
Pharmaceutical Preparations
Population

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Ohkubo, Yumiko ; Ueta, Akihito ; Ando, Naoki ; Ito, Tetsuya ; Yamaguchi, Sachiko ; Mizuno, Kantaro ; Sumi, Satoshi ; Maeda, Tohru ; Yamazaki, Daiju ; Kurono, Yukihisa ; Fujimoto, Shinji ; Togari, Hajime. / Novel mutations in the cytochrome P450 2C19 gene : A pitfall of the PCR-RFLP method for identifying a common mutation. In: Journal of Human Genetics. 2006 ; Vol. 51, No. 2. pp. 118-123.
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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, vol. 51, no. 2, pp. 118-123. https://doi.org/10.1007/s10038-005-0332-y

Novel mutations in the cytochrome P450 2C19 gene : A pitfall of the PCR-RFLP method for identifying a common mutation. / Ohkubo, Yumiko; Ueta, Akihito; Ando, Naoki; Ito, Tetsuya; Yamaguchi, Sachiko; Mizuno, Kantaro; Sumi, Satoshi; Maeda, Tohru; Yamazaki, Daiju; Kurono, Yukihisa; Fujimoto, Shinji; Togari, Hajime.

In: Journal of Human Genetics, Vol. 51, No. 2, 01.02.2006, p. 118-123.

Research output: Contribution to journalArticle

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AU - Ohkubo, Yumiko

AU - Ueta, Akihito

AU - Ando, Naoki

AU - Ito, Tetsuya

AU - Yamaguchi, Sachiko

AU - Mizuno, Kantaro

AU - Sumi, Satoshi

AU - Maeda, Tohru

AU - Yamazaki, Daiju

AU - Kurono, Yukihisa

AU - Fujimoto, Shinji

AU - Togari, Hajime

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