Faculty of Pharmacy, University of Jordan, Amman 11942, Jordan.
Mol Biol Rep. 2012 Jul;39(7):7763-8. doi: 10.1007/s11033-012-1615-y. Epub 2012 Feb 25.
Glucuronidation is one of the most important phase II metabolic pathways. It is catalyzed by a family of UDP-glucuronosyltransferase enzymes (UGTs). One of the subfamilies is UGT1A. Allele frequencies in UGT1A4 differ among ethnic groups. The aim of this study was to determine the allelic frequency of two most common defective alleles: UGT1A42 and UGT1A43 in a Jordanian population. A total of 216 healthy Jordanian Volunteers (165 males and 51 females) were included in this study. Genotyping for UGT1A41, UGT1A42 and UGT1A43 was done using a well established polymerase chain reaction-restriction fragment length polymorphism test. Among 216 random individuals studied for UGT1A42 mutation there were 26 individuals who were heterozygous, giving a prevalence of 12% and an allele frequency of 6.5%. Only one individual was homozygous for UGT1A42. The UGT1A43 mutation was detected as heterozygous in 9 of 216 individuals indicating a prevalence of 4.2% and allele frequency of 3.5%. Three individuals were homozygous for the UGT1A43 indicating a prevalence of 1.4%. The prevalence of UGT1A42 is similar to the Caucasians but different from other populations whilst the UGT1A4*3 prevalence in the Jordanian population is distinct from other populations. Our results provide useful information for the Jordanian population and for future genotyping of Arab populations in general.
葡萄糖醛酸化是最重要的 II 相代谢途径之一。它由一组 UDP-葡萄糖醛酰基转移酶（UGTs）催化。其中一个亚家族是 UGT1A。UGT1A4 的等位基因频率在不同种族之间存在差异。本研究旨在确定约旦人群中两种最常见的缺陷等位基因 UGT1A42 和 UGT1A43 的等位基因频率。本研究共纳入 216 名健康的约旦志愿者（165 名男性和 51 名女性）。使用经过验证的聚合酶链反应-限制性片段长度多态性试验对 UGT1A41、UGT1A42 和 UGT1A43 进行基因分型。在 216 名随机研究 UGT1A42 突变的个体中，有 26 名个体为杂合子，患病率为 12%，等位基因频率为 6.5%。仅有 1 名个体为 UGT1A42 纯合子。在 216 名个体中，UGT1A43 突变被检测为杂合子，患病率为 4.2%，等位基因频率为 3.5%。有 3 名个体为 UGT1A43 纯合子，患病率为 1.4%。UGT1A42 的患病率与白种人相似，但与其他人群不同，而约旦人群中 UGT1A4*3 的患病率与其他人群不同。我们的研究结果为约旦人群提供了有用的信息，也为未来一般阿拉伯人群的基因分型提供了参考。
