A convenient method for genotyping of human O6-methylguanine-DNA methyltransferase polymorphism

O6-methylguanine-DNA methyltransferase (MGMT) is one of the DNA repair enzymes in mammals. We previously screened the variant alleles for the MGMT gene in the general population, and found three variants (V1, V2, V3), two of which caused amino acid substitutions (Leu84Phe for V1, and Trp65Cys for V2). In order to accelerate the ecogenetic and pharmacogenetic studies on MGMT polymorphism, we therefore developed a new PCR-based RFLP method for genotyping. The present method has some advantages over the initial PCR-single strand conformation polymorphism (SSCP) method, particularly regarding its simplicity, rapidity and specificity.