Study of UGT1A1 Gene Mutation in People Suspected of Hyperbilirubinemia and Its Relationship with Fatty Liver Syndrome by Tetra ARMS-PCR Technique

Document Type : Original Article


1 M.Sc in Genetics, Department of Biological Sciences, Islamic Azad University, Tonekabon Branch, IRAN

2 Department of Biological Sciences, Faculty of Genetics, Islamic Azad University, Tonekabon Branch, IRAN


Hyperbilirubinemia is one of the most common disorders in the world. The disease has spread out the Middle East to Africa. The importance of this disease is high due to its widespread prevalence in the world. In this study, to investigate hyperbilirubinemia and the difference between the mutations in the UGTA1 gene with hyperbilirubinemia and the fatty liver syndrome was selected from the SNPs involved in expressing the UGTA1 gene named rs372326047.DNA genomic was extracted and one pair of primer for amplifying of the rs372326047 was designed with the help of the Oligo Version 7.0.  After the PCR reaction, samples were sequenced to determine of the fragment of UGTA1 gene.  Figures 1 and 2 showed the sequences were analyzed using the Blast program. Results observed that no mutation between UGTA1 gene. In Table 1. Ten cases from forty samples were selected including, healthy, carrier, sick and different parameters that were questioned from them. Patients have been heart diseases, diabetic-hepatic, and some patients did not have a history of inheritance diseases in family, rate of Hb in some cases was high (more than ten). Most of the cases also had high anemia and regarding some cases, the history of hyperbilirubinemia and its relationship with fatty liver diseases in family was positive and some cases was negative. Table 2. One-way ANOVA followed by Tuckey's post hoc test and HWE frequency of allelic and genotyping of nucleotide of TT, TC and CC of rs372326047of UGTA1 gene in cases and normal population respectively. Therefore, the results of this study show that there is no relationship between mutations in the rs372326047 of UGTA1 gene in hyperbilirubinemia and its relationship with fatty liver syndrome.