Detection of thiopurine s-methyltransferase mutations by template directed determinator in incorpora

• 作 者: 白玉杰 赵锦荣 张文红 薛丽 郭晏海 闫小君
• 机 构: Institute of Gene Diagnostic Technology
• 出 处: 中国人民解放军军医大学学报
• 发表日期: 2004年期
• 关键词: thiopurine S-methyltransferase(TPMT) template-directed day-terminator incorporat

Objective:To develop a new method for the detection of TPMT gene mutations and determine thefrequencies of four TPM alleles,TPMT*1,*3A,*3B and *3C in a healthy Chinese population.Methods:A TDI-FP assay system was set up in out lab.To evaluate this system,220 healthy individuals were analyzed for the polymorphisites at positions 460(G→A)and 719(A→G)of the TPMP gene using our new TDI-FP method.Results:Three TPMP*3C(G460→G719)heterozygotes were identified,TPMP *3A and TPMP *3B were not found.All mutations were confirmed by conventional DNA sequencing analysis.Conclusion:TDI-FP method has proven to be very efficient as a rapid and accurate approach for TPMP genotyping.TPMP *3C was the only polymorphism identified in this clinical samples we have registered.