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基于 DNA 芯片的 ADME 基因等位变异检测的误差和可重复性:PHARMAchip。

Errors and reproducibility of DNA array-based detection of allelic variants in ADME genes: PHARMAchip.

机构信息

Human Pharmacology & Clinical Neurosciences Research Group of the Neuropsychopharmacology Program, Institut Municipal d'Investigació Mèdica (IMIM-Hospital del Mar), Parc de Recerca Biomèdica de Barcelona, c/ Dr. Aiguader 88/08003 Barcelona, Spain.

出版信息

Pharmacogenomics. 2010 Feb;11(2):257-66. doi: 10.2217/pgs.09.165.

DOI:10.2217/pgs.09.165
PMID:20136364
Abstract

AIMS

Differences in adverse drug reactions can be explained by genetic variations, especially if they determine the expression of certain protein effectors and/or drug-metabolizing enzymes. Over the last decade, several tests screening for the most frequent polymorphisms in drug-metabolizing enzymes have been marketed for research and diagnostic purposes. The aim of this study was to assess the suitability of PHARMAchip for the genotyping of polymorphisms of genes associated with drug metabolism and response as an alternative to Jurilab Ltd's DrugMEt Test.

MATERIALS & METHODS: In this observational study, performed using 100 previously genotyped DNA samples, we report on common genes included in the two different tests examined: the former DrugMEt test and the recently introduced PHARMAchip test.

RESULTS & CONCLUSION: Although these tests are based on different methodological approaches, we have found a high concordance of results between both methods. Some of the discrepancies between tests were related to allelic variants not monitored in a particular microarray and the quality of the genomic DNA used.

摘要

目的

药物不良反应的差异可以通过遗传变异来解释,特别是如果这些变异决定了某些蛋白效应物和/或药物代谢酶的表达。在过去的十年中,已经有几种用于研究和诊断目的的药物代谢酶常见多态性筛选测试上市。本研究旨在评估 PHARMAchip 作为替代 Jurilab Ltd 的 DrugMEt Test 对与药物代谢和反应相关基因多态性进行基因分型的适用性。

材料与方法

在这项使用 100 个先前已进行基因分型的 DNA 样本进行的观察性研究中,我们报告了两种不同测试(前者是 DrugMEt 测试,后者是最近推出的 PHARMAchip 测试)中包含的常见基因。

结果与结论

尽管这些测试基于不同的方法学方法,但我们发现两种方法之间的结果具有高度一致性。测试之间的一些差异与特定微阵列中未监测到的等位基因变体以及所用基因组 DNA 的质量有关。

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