Rapid Detection of UGT1A1 Gene Polymorphisms by Newly Developed Invader Assay

Abstract

Recent progress in human genome analysis has been providing tools for a new approach to disease treatment based on individual differences identified by use of genetic information. The feasibility of genotyping for DNA polymorphisms before treatment depends on the availability of rapid, accurate, and efficient genotyping methods. We previously reported that genetic polymorphisms of the UDP-glucuronosyltransferase 1A1 ( UGT1A1 ) gene were significantly related to severe toxicity of irinotecan (1). We now report that we have succeeded in detecting a 2-bp insertion of repeated sequence in the UGT1A1 gene by use of Invader assay technology. Sixty patients who had received irinotecan-containing chemotherapy from July 1994 to June 1999 were enrolled in this study. All gave informed consent in writing for their peripheral blood to be used for the research. We used the QIAamp Blood Kit (QIAGEN GmbH) to prepare genomic DNA from whole blood (100–200 μL) and genotyped three sites of DNA polymorphisms in UGT1A1 ( UGT1A1*28 , UGT1A1*6 , and UGT1A1*27 ) by the previously described method (1). UGT1A1*28 was distinguished from the most common allele ( UGT1A1*1 ) by …