| Objective: To investigate the Thiopurine S-methyltransferase gene polymorphismand the differences of Han nationality and Uygur nationality in Xinjiang. Methods: Fourcommon mutation alleles of TPMT in healthy people in Xinjiang region [TPMT*2(G238C), TPMT*3A(A719G/G460A), TPMT*3B(CA60A), TPMT*3C(A719G)] weredetected by allele specific polymerase chain reaction (AS-PCR) and polymerase chainreaction-restriction fragment length polymorphism (PCR-PFLP). Results: EightTPMT*3C heterozygote were found in192healthy people in Xinjiang region, but noTPMT*2, TPMT*3A, TPMT*3B was found. The Allele frequency of TPMT*3C was2.08%. There were five Han nationalities and three Uygur nationalities of these TPMT*3Cheterozygotes. Conclusion: TPMT*3C appears to be the most prevalent mutant allele inthis population, and the allele frequency (2.08%) is similar to that in other regions. theallele frequency of Han nationality is no differences to Uygur nationality. |