A long PCR assay to distinguish CYP2D6*5 and a novel CYP2D6 mutant allele associated with an 11-kb EcoRI haplotype.
In: Clinica chimica acta; international journal of clinical chemistry, Jg. 347 (2004-09-01), Heft 1-2, S. 217
Online
academicJournal
Zugriff:
Background: We found a genomic DNA (N=1) associated with an unidentified 11-kb EcoRI haplotype of CYP2D6 and with amplification of the CYP2D6*5 specific polymerase chain reaction (PCR) product without the 11.5-kb XbaI haplotype in a Japanese woman. We developed a long PCR assay to distinguish CYP2D6*5 and the novel mutant allele, and we evaluated the PCR method on 162 different genomic DNA samples.
Methods: Long PCR assays were performed to amplify a fragment specific for the novel mutant allele and to exclude coamplification of CYP2D6*5.
Results: A 1692-bp PCR product was amplified from the DNA sample with the novel mutant allele, while the PCR product was not amplified from any of the 162 DNA samples.
Conclusions: The long PCR assay enabled the detection of the novel mutant allele associated with an 11-kb EcoRI haplotype. Further population studies are required to confirm the frequency of the novel mutant allele in various populations, as it may be contained in samples reported as CYP2D6*5.
| Titel: |
A long PCR assay to distinguish CYP2D6*5 and a novel CYP2D6 mutant allele associated with an 11-kb EcoRI haplotype.
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| Autor/in / Beteiligte Person: | Ishiguro, A ; Kubota, T ; Sasaki, H ; Iga, T |
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| Zeitschrift: | Clinica chimica acta; international journal of clinical chemistry, Jg. 347 (2004-09-01), Heft 1-2, S. 217 |
| Veröffentlichung: | Amsterdam, Elsevier., 2004 |
| Medientyp: | academicJournal |
| ISSN: | 0009-8981 (print) |
| DOI: | 10.1016/j.cccn.2004.04.020 |
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