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pubmed-article:16272752pubmed:abstractTextWe 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.lld:pubmed
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pubmed-article:16272752pubmed:pagination345-50lld:pubmed
pubmed-article:16272752pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:16272752pubmed:articleTitleNovel structure of the CYP2D6 gene that confuses genotyping for the CYP2D6*5 allele.lld:pubmed
pubmed-article:16272752pubmed:affiliationClinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University, Yamada-oka, Osaka, Japan.lld:pubmed
pubmed-article:16272752pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:16272752pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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