1.Clinical study of UGT1A1 gene polymorphism in unconjugated hyperbilirubinemia after renal transplantation
Hang ZHAO ; Panxin PENG ; Zhenkai LUO ; Hailong LIU ; Xuming WANG ; Zhihao YANG
Chinese Journal of Organ Transplantation 2020;41(7):398-402
Objective:To explore the gene mutations of UGT1A1 * 6 and UGT1A1 * 28 in patients with unconjugated hyperbilirubinemia after renal transplantation and understand their clinical significance.Methods:UGT1A1*6 and UGT1A1*28 gene fragments in blood samples of patients with unconjugated hyperbilirubinemia after renal transplantation were detected by digital fluorescent molecular hybridization sequencing.Results:A total of 21 patients with unconjugated hyperbilirubinemia after renal transplantation were examined for UGT1A1*6 and UGT1A1*28 alleles. The results showed that there were 3 UGT1A1*28 and UGT1A1*6 combined heterozygous mutations, 4 UGT1A1*28 gene heterozygous mutations, 2 UGT1A1*6 heterozygous mutations and 4 UGT1A1*6 homozygous mutations. Among them, the mutation rates of UGT1A1*28 gene and UGT1A1*6 gene were 33%(7/21) and 43%(9/21) respectively and the total mutation rate of both was 62%(13/21).Conclusions:UGT1A1 polymorphism is associated with unconjugated hyperbilirubinemiaafter renal transplantation. By detecting the sequence of UGT1A1*6 and UGT1A1*28 gene fragments in blood samples of renal transplant patients, it is helpful to clarify the etiology of unconjugated hyperbilirubinemia after renal transplantation to confirm the diagnosis of Gilbert syndrome and rule out the effect of immunosuppressive drugs on liver function so as to guide the clinical medication of renal transplant patients.