A PYROSEQUENCING-BASED METHOD FOR THE DETECTION OF UGT1A1 (ТА)6/(ТА)7 POLYMORPHISM

Introduction.The rs8175347 ((TA)5/6/7/8) in the UGT1A1 gene polymorphism is associated with the expression of UDP glucuronosyltransferase 1A1 enzyme. The low enzyme activity in patients with (TA)7 and (TA)8 alleles is associated with the risk of Gilbert syndrome and increased drug toxicity. The aim of the study. The aim of this study was to develop the pyrosequencing-based method for detection of rs8175347. Methods. A pyrosequencing technique for the «PyroMark Q24» genetic system was used for the detection of the polymorphism. PCR and pyrosequencing was realized in accordance with «AmpliSens Pyroscreen» system. The new method was tested on 139 samples. Results.A pyrosequencing-based method was developed for the detection of the number of (TA)-repeats in the UGT1A1 promoter. The algorythm of analysis and genotype determination was constructed. The (TA)7 allele frequency in tested samples was 33,5%. Conclusion. The new method provides the detection of both frequent ((TA)6 and (TA)7) and rare ((TA)5 and (TA)8) allels of rs8175347. The method may be used for the differential diagnostics of hyperbilirubinemia and in prescription of drugs.