Irina TİMOSHYNA, Larisa GALİY, Olga NABOKA, Olga FİLİPTSOVA, Marina KOBETS, Yulia KOBETS

Seçilmiş Ukrayna Nüfusundaki CYP1A2 geninin 163А/С Polimorfizminin Allel Frekansları

Amaç: CYP1A2, potansiyel bir genotipleme için çok önemli bir gendir. Bu çalışmanın amacı, Ukrayna nüfusunun örneklemesinde CYP1A2 geninin 163A/C tek nükleotid polimorfizminin popülasyon frekanslarını incelemekti. Yöntem: Birbiriyle akraba olmayan 102 denekten (48 erkek, 54 kadın) genetik materyal (bukkal epitel) toplandı. CYP1A2 polimorfizmi (rs762551) için çalışma katılımcılarının genotip testi, polimeraz zincir reaksiyonu kullanılarak gerçekleştirilmiştir. Genotipleme bulgularına göre allel frekansları (р ve q) hesaplandı. Bulgular: CYP1A2 geninin 163A/C polimorfizmi Ukrayna popülasyonunun örneklemesinde aşağıdaki genotip dağılımını göstermiştir: % 36 AA, % 49 AC ve % 15 CC. CYP1A2 geninin 163A/C polimorfizminin popülasyon allel frekansları, pА = 0.6 ve qС = 0.4 olmuştur. Bireylerin popülasyon yapısı, teorik olarak beklenen ve gözlenen üç genotipin sıklıkları arasındaki farkın eksikliğinden görülebileceği gibi Hardy-Weinberg dengesinden sapmaz. Sonuç: Ukraynalı popülasyonda bulunan genetik polimorfizm, CYP1A2 geninin substratları olarak reçete edilen ilaçlarda bu geninin 163A/C polimorfizminin genetik testinin önerilmesine temel oluşturmaktadır.

Allele Frequencies of 163А/С Polymorphism of the CYP1A2 gene in the Selected Ukrainian Population

Background: CYP1A2 is a very important gene for a potential genotyping.The objective of this work was to study the population frequencies of thecorresponding 163A/C single nucleotide polymorphism of the CYP1A2 genein the sampling of the Ukrainian population.Methods: Total sampling of genetic material (buccal epithelium) wascollected in 102 subjects (48 males, 54 females) not related to each other.Genotype test of the participants of the study for CYP1A2 polymorphism(rs762551) was performed using the polymerase chain reaction. Inaccordance with the findings of genotyping the allele frequencies (р and q)were calculated.Results: The following distribution of genotypes in a sampling of theUkrainian population under the 163A/C polymorphism of the CYP1A2 gene:AA - 36%, AC - 49% and CC - 15% in the subjects was revealed. Thepopulation allele frequencies of the 163A/C polymorphism of the CYP1A2gene totaled pА = 0.6 and qС = 0.4. The population structure of the individualsdoes not deviate from the Hardy-Weinberg equilibrium, as may be seen fromthe lack of difference between the theoretically expected and the observedfrequencies of the three genotypes.Conclusion: The genetic polymorphism found in the Ukrainian population isthe basis for the recommendation of the genetic testing of 163A/Cpolymorphism of the CYP1A2 gene in the prescribing drugs - substrates ofthis gene.

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