SỰ ĐA HÌNH CỦA MỘT SỐ GEN LIÊN QUAN ĐẾN QUÁ TRÌNH DƯỢC ĐỘNG HỌC CỦA 6-MERCAPTOPURIN TRÊN QUẦN THỂ NGƯỜI KINH VIỆT NAM

Summary
6-mercaptopurine (6-MP) is a chemotherapy with well-known severe toxicity on bone marrow. Various studies reported the associations between the toxicity of 6-MP with the polymorphism of four genes relating to 6-MP pharmacokinetics, including TPMT, ITPA, ABCC4 and NUDT15. A number of guidelines on adjustment of 6-MP dosage for certain polymorphic genotype of those genes in order to minimize adverse drug reactions. Application of such guidelines in clinical setting requires data on genetic polymorphisms of each population. In this article, we analized whole genome sequencing data from the 1000 genomes project to study the polymorphism of these 4 genes in Vietnamese Kinh population and evaluate the difference in allele frequencies with some other human populations. 42 polymorphic alleles of the 4 genes TPMT, ITPA, ABCC4, NUDT15 were found in Vietnamese Kinh people, of which some variants of the ABCC4 had very high frequencies of more than 0.8. There was no significant difference in variant frequencies between the Vietnamese Kinh population and the East Asian and South Asian populations. These results are necessary data for the implementation of personalized medicines in Vietnam.
Keywords: 6-mercaptopurine, TPMT, ITPA, ABCC4, NUDT15, Vietnamese Kinh population.

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