Gene mutation of thiopurine S-methyltransferase in Uygur Chinese.

摘要

OBJECTIVE: This study was to investigate the gene mutation of thiopurine S-methyltransferase (TPMT) in Uygur Chinese. METHODS: Polymerase chain reaction-based methods were used to analyze three commonly reported inactivating mutations-G238C, G460A and A719G. RESULTS: One TPMT*3A heterozygote and five TPMT*3C heterozygotes were found in 160 Uygur Chinese subjects, and allele frequencies of TPMT*3A and TPMT*3C were 0.3% and 1.6%, respectively. CONCLUSION: TPMT*3C is a common mutant allele in Uygur Chinese, while TPMT*3A is a rare mutant allele in Uygur Chinese.