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Detection of the poor metabolizer-associated CYP2D6 gene by long- and tetra-primer PCR technology

Sławomir Smolik 1Dorota Domal-Kwiatkowska 1Ewa Nowalany-Kozielska 2Ludmiła Węglarz 1

1. Medical University of Silesia, Department of Biochemistry, Narcyzow 1, Sosnowiec 41-200, Poland
2. Medical University of Silesia Department of Cardiology, Curie-Skłodowskiej 10, Zabrze 41-800, Poland


Cytochrome P450 (CYP) 2D6 is one of the most important enzymes involved in the metabolism of drugs. Genotyping of CYP2D6 could be applied in individualization of drug therapy to improve therapeutic efficacy and decrease adverse effects enable to avoid the  therapeutic failure following drug treatment. Several mutations have been described in the CYP2D6 gene that abolish CYP2D6 activity, however, four mutations accounts for the majority of the poor metabolizers. Genomic DNA was etracted from a total of 109 EDTA-supplemented blood samples of patients with dilated cardiomyopathy.

Multiplex long PCR was performed to genotype the CYP2D6*5 allele and three tetra-primer PCR assays were developed to detect the mutations in the CYP2D6*3, CYP2D6*4, CYP2D6*6 alleles. Analysis of 109 alleles showed the CYP2D6*4 polymorphism to occur at the allelic frequency of 22.93%, whereas CYP2D6*3, CYP2D6*5 and CYP2D6*6 at 1.83%, 1.83% and 0.91% frequency, respectively. The method allows rapid and cheap genotyping of the majority of poor metabolizers of CYP2D6. 


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Related papers

Presentation: Poster at IX Multidyscyplinarna Konferencja Nauki o Leku, by Sławomir Smolik
See On-line Journal of IX Multidyscyplinarna Konferencja Nauki o Leku

Submitted: 2014-03-14 21:22
Revised:   2014-05-02 19:01