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塞尔维亚人群中 MDR1 基因 C1236T、G2677T/A 和 C3435T 多态性的频率。

Frequency of the C1236T, G2677T/A and C3435T MDR1 gene polymorphisms in the Serbian population.

机构信息

Institute of Pathophysiology, University School of Medicine Zorana Djindjica 81, 18000 Nis, Serbia.

出版信息

Pharmacol Rep. 2011;63(3):808-14. doi: 10.1016/s1734-1140(11)70593-x.

Abstract

The multi-drug resistance 1 (MDR1) gene encodes for a P-glycoprotein (PGP), which acts as a gate-keeper against various kinds of xenobiotics. Several single nucleotide polymorphisms (SNPs) in the MDR1 gene that may influence PGP level and function have been identified. The aim of this study was to simultaneously analyze the three most important MDR1 SNPs, C3435T, G2677T/A and C1236T, in the Serbian population and to compare the results with those published for other ethnic groups. A group of 158 unrelated, healthy subjects was included in the present study. For determination of MDR1 SNPs, a multiplexed mutagenically separated PCR was performed. The genotype frequency of the analyzed MDR1 SNPs was as follows: 3435 nt - 0.19 (CC), 0.54 (CT) and 0.27 (TT); 2677 nt - 0.26 (GG), 0.52 (GT), 0.15 (TT), 0.03 (GA) and 0.064 (TA), and 1236 nt - 0.23 (CC), 0.61 (CT) and 0.16 (TT). Our results for the Serbian population could be relevant for further investigation of drugs that are substrates of PGPand for studies of interethnic diversity in MDR1 polymorphism frequency.

摘要

多药耐药基因 1 (MDR1) 基因编码一种 P-糖蛋白 (PGP),作为抵御各种外源性物质的守门员。已经确定了 MDR1 基因中可能影响 PGP 水平和功能的几个单核苷酸多态性 (SNP)。本研究的目的是同时分析塞尔维亚人群中三个最重要的 MDR1 SNPs,C3435T、G2677T/A 和 C1236T,并将结果与其他种族的研究结果进行比较。本研究纳入了一组 158 名无关的健康受试者。为了确定 MDR1 SNPs,进行了多重突变分离 PCR。分析的 MDR1 SNPs 的基因型频率如下:3435 nt-0.19(CC)、0.54(CT)和 0.27(TT);2677 nt-0.26(GG)、0.52(GT)、0.15(TT)、0.03(GA)和 0.064(TA),以及 1236 nt-0.23(CC)、0.61(CT)和 0.16(TT)。我们对塞尔维亚人群的研究结果可能与进一步研究 PGP 底物药物以及 MDR1 多态性频率的种族间差异有关。

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