Aim: Cytochrome P450 is a hepatic enzyme system responsible for drug metabolism comprising different iso-enzymes. CYP2D6 enzyme, which composes 2-4% of all cytochrome enzymes, is responsible for 25% of the metabolisms of the drugs used in clinics. The genetic polymorphisms of this enzyme can change the efficiency and toxicity of the drugs used. In this study, the retrospective evaluation of CYP2D6 gene polymorphisms that influence enzyme activity in the Turkish population is targeted.
Materials and Methods: From the 192 patients sent from psychiatry, medical genetics and neurology polyclinics to our laboratory, by the methods of Multiplex Polymerase Chain Reaction (PCR) and Multiplex Allele Specific Primer Extension (ASPE), CYP2D6 enzyme gene polymorphisms were determined.
Results: Of all the cases, 82,29% were determined as extensive, 12,5% as intermediate, 2,08% as poor and 3,13% as ultra-rapid metabolizers. In our population, the most frequent alleles were *1 (37,63%), *2 (24,75%), *41 (15,15%), *4 (9,85%) and *10 (4,29%), respectively.
Conclusion: In the current examined population, compared to the previous studies conducted on Turkish society, it was determined that the percentage of extensive metabolizers was higher while the percentages of poor metabolizers and ultra-rapid metabolizers were lower. In addition, *41 allele that follows the decrease in enzyme function was detected as the most frequent allele in this study. The fact that the percentage of the cases in which changes were observed was 17,1% will help determine the CYP2D6 gene mutations in the pre-treatment cases.
Key words: Cytochrome P450; CYP2D6 enzyme; gene polymorphisms; phenotype frequencies
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