Development of a genotyping method for TPMT*2 gene polymorphism detection in related to azathioprine medication

Most medications show wide interpatient variability either in efficacy or toxicity. These interindividual variation result in part from polymorphisms in genes encoding drug-metabolizing enzymes, drug transporters and others. For some genetic polymorphisms, such as thiopurine S-methyltransferase (TPMT), has an effect on the pharmacokinetics of medications, such that individuals who inherit or has an enzyme deficiency must be treated with different doses of the Azathioprine. This type of individual can not be treated by using conventional doses as it can develop certain toxicity. The aim of this study is to develop genotyping method of polymerase chain reaction (PCR) in detection of nonsynonymous coding SNP rsl 1800462 TPMT* 2 gene. Primer for first and second PCR method were designed for this research. In this study, PCR was optimized by adjustment of PCR parameter which is annealing temperature. However, due to limitation of time, other parameter such as concentration of primer, concentration of MgCh, and concentration of DNA can not be optimized. Optimization of PCR of TPMT*2 gene polymorphism is important as it opens way for further studies to look into significant association of TPMT*2 gene polymorphism in Malaysian population.