Nakagawa Taku, Mure Takeo, Yusoff Surini, Ono Eiichi, Kusuma Harahap Indra Sari, Morikawa Satoru, Morioka Ichiro, Takeshima Yasuhiro, Nishio Hisahide, Matsuo Masafumi
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kobe J Med Sci. 2011 Jul 20;57(1):E26-31.
The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1, for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with hyperbilirubinemia, Crigler-Najjar syndrome and Gilbert's syndrome. In this study, we identified a UGT1A1 mutation in an 8-year-old Japanese girl with persistent hyperbilirubinemia who was clinically diagnosed as having Gilbert's syndrome. For the mutational analysis of UGT1A1, we performed a full sequence analysis of the gene using the patient's DNA. She was homozygous for a T to G transversion at nucleotide position 1456 in UGT1A1 exon 5 (c.1456T>G), leading to the substitution of aspartate for tyrosine at position 486 of the UGT1A1 protein (p.Y486D). In conclusion, the homozygous mutation of UGT1A1 may be responsible for persistent hyperbilirubinemia in this patient.
UGT1A1基因编码一种负责胆红素代谢的酶，即尿苷二磷酸葡萄糖醛酸基转移酶1A1。在患有遗传性高胆红素血症、克里格勒 - 纳贾尔综合征和吉尔伯特综合征的患者中，已经发现了许多突变。在本研究中，我们在一名8岁的日本女孩中发现了UGT1A1突变，该女孩患有持续性高胆红素血症，临床诊断为吉尔伯特综合征。为了对UGT1A1进行突变分析，我们使用患者的DNA对该基因进行了全序列分析。她在UGT1A1外显子5的核苷酸位置1456处发生了T到G的颠换，为纯合子（c.1456T>G），导致UGT1A1蛋白第486位的酪氨酸被天冬氨酸取代（p.Y486D）。总之，UGT1A1的纯合突变可能是该患者持续性高胆红素血症的原因。
