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The smartamp method: Rapid detection of SNPs in thiopurine S-methyltransferase and ABC transporters ABCC4 and ABCG2

机译:smartamp方法:快速检测硫嘌呤S-甲基转移酶和ABC转运蛋白ABCC4和ABCG2中的SNP

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摘要

Genetic polymorphisms of drug transporters as well as drug metabolizing enzymes have been documented to play a significant role in patients' responses to medication. A key requirement for advancing personalized medicine is the ability to rapidly and conveniently test for patients' genetic polymorphisms. We have recently developed a rapid and cost-effective method for single nucleotide polymorphism (SNP) detection, named Smart Amplification Process (SmartAmp), which enables us to detect genetic polymorphisms or mutations in 30 to 45 min under isothermal conditions without the need for DNA isolation and PCR amplification. This article presents the SmartAmp-based detection of SNPs in the thiopurine S-methyltransferase gene as well as in the ATP-binding cassette (ABC) transporter ABCC4 and ABCG2 genes that are critically involved in drug-induced adverse reactions. The SmartAmp method is expected to provide a practical and cost-effective tool for pharmacogenomics-based personalized medicine.
机译:药物转运蛋白和药物代谢酶的遗传多态性已被证明在患者对药物的反应中起重要作用。推进个性化医学的关键要求是能够快速方便地测试患者的遗传多态性。我们最近开发了一种快速且经济高效的单核苷酸多态性(SNP)检测方法,称为智能扩增过程(SmartAmp),它使我们能够在等温条件下在30至45分钟内检测遗传多态性或突变,而无需DNA分离和PCR扩增。本文介绍了基于SmartAmp的硫嘌呤S-甲基转移酶基因以及ATP结合盒(ABC)转运蛋白ABCC4和ABCG2基因中SNP的检测,这些基因与药物引起的不良反应至关重要。 SmartAmp方法有望为基于药物基因组学的个性化药物提供一种实用且具有成本效益的工具。

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