Thiopurine methyltransferase polymorphisms in a Brazilian population
Thiopurine methyltransferase polymorphisms in a Brazilian population
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DOI：
10.1038/sj.tpj.6500175
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发表时间：
2003-01-01
影响因子：
2.8
通讯作者：
De Marco, L
中科院分区：
文献类型：
--
作者：
Boson, WL;Romano-Silva, MA;De Marco, L
巯基嘌呤甲基转移酶（TPMT）催化巯基嘌呤药物的S-甲基化。低活性表型与TPMT基因中的几个突变相关。TPMT的多态性已被报道为高加索人，非洲裔美国人和亚洲人。由于种族差异已在世界范围内得到证明，巴西的种族差异仍有待阐明。巴西人口是五个世纪以来来自几乎所有大陆的民族以及土著美洲印第安人之间种族交叉的结果，所有这些人都构成了世界上第五大和最多样化的人口之一。TPMT基因的6个等位基因变体的频率，*2（G238 C）（2.2%），*3A（G460 A和A719 G）（1.5%），*3B（G460A）（0.2%），*3C（A719G）在巴西受试者中，使用聚合酶链反应（PCR）-RFLP和基于等位基因特异性PCR的测定确定了 *5（0%）和 *6（0%）。这项研究提供了第一个分析TPMT突变等位基因频率在巴西人口的样本。
Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs. Low-activity phenotypes are correlated with several mutations in the TPMT gene. Polymorphisms of TPMT have been reported for Caucasians, African-Americans and Asians. Since ethnic differences have been demonstrated worldwide, it remains to be elucidated in Brazil. The Brazilian population is the result of five centuries of interethnic crosses between peoples from almost all continents as well as autochthonous Amerindians, all forming the fifth largest and one of the most heterogeneous populations in the world. The frequency of six allelic variants of the TPMT gene, *2 (G238C) (2.2%), *3A (G460A and A719G) (1.5%), *3B (G460A) (0.2%), *3C (A719G) (1.0%), *5 (0%) and *6 (0%) were determined in Brazilian subjects using polymerase chain reaction (PCR)-RFLP and allele-specific PCR-based assays. This study provides the first analysis of TPMT mutant allele frequency in a sample of the Brazilian population.