Background: Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme involved in the metabolism of these thiopurine drugs. Methylation of thiopurine drugs by TPMT competes with the formation of their active 6-thioguanine nucleotide metabolite, thereby potentially modulating the therapeutic and toxic effects of these drugs.
Objective: To analyze the thiopurine S-methyltransferase allelic frequencies in Taiwan aborigines and Taiwanese.
Methods: We used polymerase chain reaction-restriction fragment length polymorphism method to determine the allelic frequencies of TPMT variants (TPMT*1-TPMT*8) in 409 Taiwan aborigines and 117 Taiwanese.
Results and discussion: The results showed that the allelic frequencies of TPMT*1 were 99.88% and 98.72% for Taiwan aborigines and Taiwanese respectively. The allelic frequencies of TPMT*3C were 0.12% and 1.28% for Taiwan aborigines and Taiwanese respectively. No TPMT*2, 3A, 3B, 3D and 4-8 were found in these populations.
Conclusion: Our results provide useful information for using thiopurine drugs in these populations.