Sun Shun-chang, Zhou Zhi-ming, Chen Qun-rong, Peng Yun-sheng, Tu Chuan-qing
Department of Clinical Laboratory, People's Hospital of Baoan, Shenzhen, Guangdong 518101, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):425-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.010.
To analyze potential mutations of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene in patients with unconjugated hyperbilirubinemia, and to explore the correlation between the mutations and total serum bilirubin levels.
Genomic DNA was extracted from peripheral blood samples of patients. Coding sequence and promoter region of the UGT1A1 gene were amplified. Mutations were identified through DNA sequencing.
Mutations of the UGT1A1 gene were found in 46 out of 61 patients with unconjugated hyperbilirubinemia. Five types of mutations were detected, with a decreasing order of 211G>A, TA insertion in the TATAA promoter element, 686C>A, 1091C>T and 1352C>T. Compared with those carrying a single homozygous mutation or compound heterozygous mutations, total serum bilirubin was higher in those carrying a homozygous mutation in combination with other heterozygous mutations (P< 0.05). Based on the UGT1A1 gene mutations and level of total serum bilirubin, 44 patients were diagnosed with Gilbert syndrome, and 2 were diagnosed with Crigler-Najjar syndrome type 2.
The level of total serum bilirubin is correlated with the number of UGT1A1 gene mutations as well as their heterozygous or homozygous status.
分析非结合胆红素血症患者尿苷二磷酸葡萄糖醛酸基转移酶1A1（UGT1A1）基因的潜在突变，并探讨这些突变与血清总胆红素水平之间的相关性。
从患者外周血样本中提取基因组DNA。扩增UGT1A1基因的编码序列和启动子区域。通过DNA测序鉴定突变。
61例非结合胆红素血症患者中，46例检测到UGT1A1基因突变。共检测到5种类型的突变，按发生率由高到低依次为211G>A、TATAA启动子元件中的TA插入、686C>A、1091C>T和1352C>T。与携带单一纯合突变或复合杂合突变的患者相比，携带纯合突变并伴有其他杂合突变的患者血清总胆红素水平更高（P<0.05）。根据UGT1A1基因突变情况和血清总胆红素水平，44例患者被诊断为吉尔伯特综合征，2例被诊断为2型克里格勒-纳贾尔综合征。
血清总胆红素水平与UGT1A1基因突变的数量及其杂合或纯合状态相关。
