Babaoglu Melih O, Yigit Sule, Aynacioglu A Sukru, Kerb Reinhold, Yurdakok Murat, Bozkurt Atila
Department of Pharmacology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Basic Clin Pharmacol Toxicol. 2006 Apr;98(4):377-80. doi: 10.1111/j.1742-7843.2006.pto_341.x.
Bilirubin uridine diphosphate-glucuronosyltransferase (B-UGT) is the rate-limiting enzyme for the conjugation of bilirubin with glucuronic acid in its excretion process into the bile. Variations in B-UGT gene (UGT-1A1) have been related to disorders characterised by hyperbilirubinaemia. The aim of this study was to investigate whether the number of thymine-adenine repeats in the promoter region of UGT-1A1 was related to non-physiologic hyperbilirubinemia of unexplained aetiology in Turkish newborns. These patients (n=106) were genotyped for their thymine-adenine repeat number in the promoter region of UGT-1A1, and were divided into two groups according to their bilirubin level. Forty-nine newborns with bilirubin levels higher than 17 mg/dl within the first ten days of life comprised the hyperbilirubinaemia group and 25 newborns with bilirubin levels higher than 10 mg/dl after fifteen days of life formed the prolonged jaundice group. Thirty-two newborns were included as healthy controls. The observed frequencies for the wild-type six repeat allele thymine-adenine (TA(6)) within each subject group were similar (P>0.05; 75.5%, 78.0% and 73.4%, respectively). Likewise, the distribution of TA(6/6), TA(6/7) and TA(7/7) genotypes among three groups were similar. These results imply that the TA(7) repeat allele of UGT1A1 (UGT1A1*28) is a common variant in the Turkish population. Our results do not suggest an association between thymine-adenine repeat polymorphism of UGT1A1 and hyperbilirubinaemia of unexplained aetiology or prolonged jaundice in Turkish neonates.
胆红素尿苷二磷酸葡萄糖醛酸基转移酶（B-UGT）是胆红素在其排泄入胆汁过程中与葡萄糖醛酸结合的限速酶。B-UGT基因（UGT-1A1）的变异与以高胆红素血症为特征的疾病有关。本研究的目的是调查UGT-1A1启动子区域胸腺嘧啶-腺嘌呤重复序列的数量是否与土耳其新生儿不明病因的非生理性高胆红素血症有关。对这些患者（n = 106）的UGT-1A1启动子区域胸腺嘧啶-腺嘌呤重复序列数量进行基因分型，并根据其胆红素水平分为两组。49例出生后十天内胆红素水平高于17mg/dl的新生儿组成高胆红素血症组，25例出生后十五天胆红素水平高于10mg/dl的新生儿组成持续性黄疸组。32例新生儿作为健康对照。每个受试者组中野生型六个重复等位基因胸腺嘧啶-腺嘌呤（TA(6)）的观察频率相似（P>0.05；分别为75.5%、78.0%和73.4%）。同样，三组之间TA(6/6)、TA(6/7)和TA(7/7)基因型的分布也相似。这些结果表明，UGT1A1的TA(7)重复等位基因（UGT1A1*28）在土耳其人群中是一种常见变异。我们的结果并不表明UGT1A1的胸腺嘧啶-腺嘌呤重复多态性与土耳其新生儿不明病因的高胆红素血症或持续性黄疸之间存在关联。
