The Technology of Digital PCR for Analysis of The Deletion Polymorphism in the GSTM1 Gene

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M. Beráneka,b, Z. Fialac, J. Kremláčekd, V. Paličkaa, and L. Borskád

a Institute of Clinical Biochemistry and Diagnostics, Faculty of Medicine, Charles University and Faculty Hospital Hradec Kralove, b Department of Biochemical Sciences, Faculty of Pharmacy in Hradec Kralove, c Institute of Hygiene and Preventive Medicine, d Institute of Pathological Physiology, Faculty of Medicine in Hradec Kralove, Charles University in Prague, Czech Republic

Keywords: digital PCR, GSTM1, polymorphism, genotoxicity, deletion, null allele


Glutathione S-transferase M1 is a cytosolic enzyme important for the biotransformation of xenobiotics in various human tissues. The aim of this study was to perform genetic analysis of deletion polymorphism in the GSTM1 gene by using the technology of digital PCR. For genotyping, the QX100 Droplet Digital PCR System was used. The absolute quantity of GSTM1 copies was normalized to the ß-globin reference gene. In our experimental group, the prevalence of GSTM1*0 null variant was 67 %. Frequencies of GSTM1*1/*1 (n=5), GSTM1*0/*1 (n=23), and GSTM1*0/*0 (n=22) genotypes were 10 %, 46 %, and 44 %, respectively. Digital PCR seems to be an available and reliable technology for GSTM1 deletion polymorphism genotyping.


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