Variations of the bilirubin uridine-diphosyphoglucuronosyl transferase 1A1 gene in healthy Taiwanese
Variations of the bilirubin uridine-diphosyphoglucuronosyl transferase 1A1 gene in healthy Taiwanese
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DOI：
10.1097/00008571-200008000-00007
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发表时间：
2000-08-01
期刊：
影响因子：
--
通讯作者：
Yang, SS
中科院分区：
文献类型：
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作者：
Huang, CS;Luo, GA;Yang, SS
尿苷-二磷酸葡萄糖醛酸转移酶1 （UGT1）的活性可能影响血清胆红素的浓度。由于UGT1太不稳定，无法用传统的生化方法测量，我们采用聚合酶链反应法分析了290名台湾健康成年人的UGT1A1全基因，并研究了UGT1A1基因型与血清胆红素水平的关系。结果表明,略高于50%的受试者UGT1A1基因,一个或多个变体网站最常见的变体是一个(TA) (6) TAA / (TA) (7) TAA(6/7)在启动子区域,其次是杂合的编码区中的变化,复合杂合的和纯合子的变化,在四个变体网站内的编码区,是占主导地位的211克,1091 C T是一个新颖的变化,和686 C与6/7,编码区6/7或杂合变异或复合杂合（加1个纯合）变异的受试者的胆红素水平明显高于野生UGT1A1基因的受试者。将290名受试者根据血清胆红素浓度分为6组，胆红素水平与变异UGT1A1基因的频率有很好的相关性。我们的研究结果显示UGT1A1基因与台湾健康成人的胆红素水平有很强的相关性。A(TA)(7)TAA等位基因在台湾地区的发生率相对较低，编码区变异率远高于白种人。中国生物医学工程学报（英文版），2004,12(3):539-544。
The activity of uridine-diphosphoglucuronosyl transferase 1 (UGT1) may influence the concentration of serum bilirubin. Because UGT1 is too labile to be measured with classical biochemical methods, we analysed the whole UGT1A1 gene in 290 healthy Taiwanese adults by using the polymerase chain reaction method, and investigated the relationship between UGT1A1 genotypes and serum bilirubin levels. The results showed that slightly more than 50% of the subjects had one or more variant sites in UGT1A1 gene, The most common variant was A(TA)(6)TAA/A(TA)(7)TAA (6/7) in the promoter area, followed by heterozygous variation within the coding region, compound heterozygous and homozygous variations, Among the four variant sites within the coding region, 211 G to A was the predominate one, 1091 C to T was a novel variation, and 686 C to A was associated with 6/7, Subjects with 6/7 or heterozygous variation within the coding region or compound heterozygous (plus one homozygous) variation had significantly higher bilirubin levels than those with wild UGT1A1 gene, When the 290 subjects were stratified into six groups according to their serum bilirubin concentrations, the bilirubin levels were correlated well to the frequencies of variant UGT1A1 gene. Our results show that there is a strong association between UGT1A1 gene and bilirubin levels in healthy Taiwanese adults. The occurrence of A(TA)(7)TAA allele was relatively rare and the variation rate within the coding region was much higher in Taiwanese compared to that in Caucasians. Pharmacogenetics 10:539-544 (C) 2000 Lippincott Williams & Wilkins.