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巴西人群中的谷胱甘肽S-转移酶变体

Glutathione s-transferase variants in a brazilian population.

作者信息

Magno Luiz Alexandre V, Talbot Jhimmy, Talbot Teddy, Borges Santos Alex Marques, Souza Renan P, Marin Lauro J, Moreli Marcos Lázaro, de Melo Paulo R S, Corrêa Ronan X, Rios Santos Fabrício, Di Pietro Giuliano

机构信息

Laboratório de Farmacogenômica e Epidemiologia Molecular, Universidade Estadual de Santa Cruz, Ilhéus, Brazil.

出版信息

Pharmacology. 2009;83(4):231-6. doi: 10.1159/000205823. Epub 2009 Mar 4.

Abstract

Recent pharmacogenomic studies have revealed significant interethnic differences in glutathione S-transferase (GST) allelic frequencies among various ethnic groups. Therefore, we have investigated GSTM1 (gene deletion), GSTT1 (gene deletion) and GSTP1 (rs1695) polymorphism frequencies in 3 Brazilian ethnic groups (n = 203). GSTM1 and GSTT1 polymorphism analyses were performed by multiplex polymerase chain reaction, and GSTP1 (rs1695) analysis was done by polymerase chain reaction restriction fragment length polymorphism. GSTM1- polymorphism frequency was 33.2%, while GSTT1 null (GSTT1-) was 30.2%. The valine GSTP1*B (rs1695) allele was present in 35.1% subjects, while the heterozygous form (isoleucine/valine) was the most prevalent genotype (46.6%). We found a statistically significant difference in genotype frequency among Amerindians versus Caucasians (p = 0.016) and among Amerindians versus African-Americans (p = 0.033). Considerable frequency variation was found in our study, even when compared with other studies showing phylogeographical heterogeneity to the genes studied in Brazilian populations.

摘要

近期的药物基因组学研究表明,不同种族群体间谷胱甘肽S-转移酶(GST)等位基因频率存在显著差异。因此,我们调查了3个巴西种族群体(n = 203)中GSTM1(基因缺失)、GSTT1(基因缺失)和GSTP1(rs1695)的多态性频率。GSTM1和GSTT1多态性分析通过多重聚合酶链反应进行,GSTP1(rs1695)分析通过聚合酶链反应-限制性片段长度多态性进行。GSTM1多态性频率为33.2%,而GSTT1缺失(GSTT1-)为30.2%。缬氨酸GSTP1*B(rs1695)等位基因在35.1%的受试者中存在,而异合子形式(异亮氨酸/缬氨酸)是最常见的基因型(46.6%)。我们发现美洲印第安人与高加索人之间(p = 0.016)以及美洲印第安人与非裔美国人之间(p = 0.033)的基因型频率存在统计学显著差异。即使与其他显示巴西人群中所研究基因存在系统地理学异质性的研究相比,我们的研究中也发现了相当大的频率差异。

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