基于连接酶反应检测硫唑嘌呤基因多态性及应用

Establishment and application of ligase-based method detecting polymorphism of TPMT

目的:建立并探讨基于连接酶反应检测硫嘌呤甲基转移酶(thiopurineS-methyltransferase,TPMT)基因分型分布的新方法。方法:建立多重PCR/连接酶检测方法检测TPMT基因多态性,并对50份健康志愿者样本进行检测。结果:本方法可靠、迅速,自动化程度高。研究未发现导致TPMT酶活性降低的基因型*2,*3A,*3B和*4,TPMT*3C仅发现2例杂合子。结论:本文建立的基因分型技术可为TPMT基因型检测提供可靠的方法。

AIM： To establish one ligase-based method to detect the gene polymorphism of TPMT. METHODS： The multiplex PCR/ligase detection reaction（L DR） was established, and 50 blood samples of healthy postulants were investigated with this method. RESULTS：This method was reliable, rapid, high-degree automatic. The genotype of ＊2, ＊3A, ＊3B and ＊4, which depressed the activity of TPMT were not found,only 2 samples of TPMT 3C heterozygote were detect- ed. CONCLUSION： This method can be applied for TPMT polymorphisms detection.