Novel Structure of the CYP2D6 Gene that Confuses Genotyping for the CYP2D6*5 Allele

• FUKUDA Tsuyoshi

  Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University

• MAUNE Hiromi

  Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University

• IKENAGA Yuka

  Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University

• NAOHARA Masakazu

  Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University

• FUKUDA Kazuhiro

  Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University

• AZUMA Junichi

  Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University

抄録

   We encountered DNA samples which showed a positive product using a long PCR-based method for the detection of CYP2D6^*5, indicating deletion of the entire CYP2D6 gene, but the samples did not show a band related to CYP2D6^*5 in either XbaI- or EcoRI-RFLP analysis. To achieve genotyping with accuracy, we performed a further genetic analysis to clarify the discrepancy. An unknown 1.6-kb insert was identified in a region downstream from the CYP2D6 stop codon where a specific primer was designed for long-PCR analysis for CYP2D6^*5 genotyping. This finding suggested that the CYP2D6 gene might not be deleted in the samples even if a positive product was detected by the long-PCR method. Furthermore, the allelic frequency of this type was found to be approximately 0.3% (4 heterozygous/771 samples) in a Japanese population. In conclusion, we found a novel structure of the CYP2D6 gene, which might lead to incorrect genotyping for CYP2D6^*5. Although the long PCR-based strategy for the detection of CYP2D6^*5 has been widely used due to its usefulness and convenience, we recommend caution when adopting this method and propose re-evaluating the method for detecting CYP2D6^*5.<br>

収録刊行物

• Ｄｒｕｇ　Ｍｅｔａｂｏｌｉｓｍ　ａｎｄ　Ｐｈａｒｍａｃｏｋｉｎｅｔｉｃｓ

  Ｄｒｕｇ　Ｍｅｔａｂｏｌｉｓｍ　ａｎｄ　Ｐｈａｒｍａｃｏｋｉｎｅｔｉｃｓ 20 (5), 345-350, 2005

  日本薬物動態学会

キーワード

• CYP2D6
• genetic polymorphism
• <i>CYP2D6</i>^*<i>5</i>
• genotyping

詳細情報

• CRID: 1390001205181294592
• NII論文ID: 130004462970
• NII論文ID: 80017631704
• DOI: 10.2133/dmpk.20.345
• ISSN: 18800920
• ISSN: 13474367
• Web Site: http://api.elsevier.com/content/article/PII:S1347436715307710?httpAccept=text/xml
• Web Site: http://api.elsevier.com/content/article/PII:S1347436715307710?httpAccept=text/plain
• Web Site: https://search.jamas.or.jp/link/ui/2006280228
• 本文言語コード: en
• データソース種別:
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