肾移植后非结合性高胆红素血症患者UGT1A1＊28和＊6基因突变的分析  

Analysis of genetic mutation of UGT1A1 ＊ 28 and UGT1A1 ＊ 6 in renal transplant patients with unconjugated hyperbilirubinemia

作　　者：杨志豪[1] 丁振山[1] 张冠[1] 陈海昕[1] 李朋梅[2] 王晓星[2] 覃旺军[2] 张相林[2] 

机构地区：[1]中日友好医院泌尿外科,北京100029 [2]中日友好医院药学部,北京100029

出　　处：《中华器官移植杂志》2017年第2期108-111,共4页Chinese Journal of Organ Transplantation

摘　　要：目的 分析肾移植合并非结合型高胆红素血症患者UGT1A1＊6和UGT1A1＊ 28基因突变的情况,探讨其临床意义.方法 采用数字荧光分子杂交测序法检测患者血液样本中UGT1A1＊6和UGT1A1＊ 28目的基因片段的序列,以确定8例患者的UGT1A1＊6和＊28基因的突变情况.结果 8例患者中,有2例UGT1A1＊ 28基因杂合突变型,3例UGT1A1＊6基因纯合突变型,2例UGT1A1＊6杂合突变型,以及1例UGT1A1＊ 28和UGT1A1＊6的联合杂合突变型.结论 肾移植合并非结合型高胆红素血症有较高的UGT1A＊6和UGT1A1＊ 28基因杂合或纯合突变检出率,其临床非结合型高胆红素升高可能与UGT1A＊6和UGT1A1＊ 28基因杂合或纯合突变有关.Objective To explore the clinical significance and gene mutation profiles of renal transplant patients with unconjugated hyperbilirubinemia （Gilbert＇s syndrome）.Methods Genomic DNA was extracted from peripheral blood samples of 8 renal transplant patients with Gilbert＇S syndrome.UGT1A1 ＊ 6 and UGT1A1 ＊ 28 genotypes were identified through digital fluorescence molecular hybridization and DNA sequencing.Results There are 2 cases of UGT1A1 ＊ 28 heterozygous mutant,3 cases of UGT1A1 ＊ 6 homozygous mutant,2 case of UGT1A1 ＊ 6 heterozygous mutant,1 case of UGT1A1 ＊ 28 heterozygous mutant combined with UGT1A1 ＊ 6 heterozygous mutant.Conclusion There is a higher heterozygous or homozygous gene mutation rate of UGT1A1 ＊ 6 and UGT1A1 ＊ 28 in renal transplant patients with Gilbert＇s syndrome.Genetic mutation of UGT1A1 ＊ 6 and UGT1A1 ＊ 28 may be the reason of Gilbert＇s syndrome after renal transplant.

关 键 词：肾移植 非结合型高胆红素血症 UGT1A1＊6 UGT1A1＊28 

分 类 号：R699.2[医药卫生—泌尿科学]