Background: It is known that the distribution of polymorphism frequencies can vary
greatly between different ethnic groups, resulting in variable percentages of poor, intermediate
or extensive metabolizers in a given population.
Objective: This study was carried out to estimate the genotype frequencies of common variants
in the CYP2D6, CYP3A5 and DPYD genes in the Yakut population from North-Eastern Siberia.
To compare the allelic distribution found with the frequencies reported for other ethnic groups.
Method: Genotyping was carried out by real-time polymerase-chain reaction in a total of 100
healthy unrelated Yakut subjects (CYP2D6 c.100C>T, CYP3A5 g.6986G>A, DPYD
c.1905+1G>A, DPYD c.1679T>G, DPYD c.2846T>A).
Results: The allele frequencies for CYP3A5*3 and DPYD*13 in Yakuts were 0.08 and 0.01,
respectively. No DPYD*2A and DPYD c.2846A alleles were detected.
Conclusion: Our data on the distribution of frequencies of genotypes and alleles of polymorphisms
of CYP2D6, CYP3A5 and DPYD genes in the Yakut population as a whole are more
characteristic of the European populations.