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Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1 – MRP1) in the Polish population

机译:波兰人ABC转运蛋白基因ABCC1(多药耐药蛋白1 – MRP1)的遗传变异

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摘要

BackgroundMultidrug resistance-associated protein 1 (MRP1), encoded by the ABCC1 gene, is an ATP-binding cassette transporter mediating efflux of organic anions and xenobiotics; its overexpression leads to multidrug resistance. In this study, 30 exons (from 31 in total) of the ABCC1 gene as well as and their flanking intron sequences were screened for genetic variation, using the High Resolution Melting (HRM) method, for 190 healthy volunteers representing the Polish population. Polymorphism screening is an indispensable step in personalized patient therapy. An additional targeted SNP verification study for ten variants was performed to verify sensitivity of the scanning method.
机译:背景由ABCC1基因编码的多药耐药相关蛋白1(MRP1)是介导有机阴离子和异源生物外排的ATP结合盒转运蛋白。其过表达导致多药耐药性。在这项研究中,使用高分辨率熔解(HRM)方法,对代表波兰人口的190名健康志愿者的ABCC1基因及其外显子内含子序列的30个外显子(共31个外显子)进行了遗传变异筛选。多态性筛选是个性化患者治疗中必不可少的步骤。针对十个变体进行了另一项针对性的SNP验证研究,以验证扫描方法的敏感性。

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