南印度人群CYP2C19基因的相对拷贝数变异

Molecular biology international Pub Date : 2012-01-01 Epub Date: 2012-06-25 DOI:10.1155/2012/643856
Anichavezhi Devendran, Chakradhara Rao Satyanarayana Uppugunduri, Rajan Sundaram, Deepak Gopal Shewade, Krishnamoorthy Rajagopal, Adithan Chandrasekaran
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引用次数: 3

摘要

CYP2C19是一种参与临床重要药物代谢的多态性酶。CYP2C19的基因型-表型关联研究报道了其底物代谢比率的广泛范围。这些差异可能归因于启动子区域的差异,这方面最近有报道。最近报道的关于启动子区变异对CYP2C19底物代谢影响的观察结果也可能受到CYP2C19拷贝数变异的影响。本文采用实时聚合酶链反应比较Ct法描述CYP2C19拷贝数的变化。在南印度人群中未观察到拷贝数变化,这表明基因型-表型关联研究中观察到的差异可能是由于先前报道的调控区多态性。
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Relative Copy Number Variations of CYP2C19 in South Indian Population.

CYP2C19 is a polymorphic enzyme involved in the metabolism of clinically important drugs. Genotype-phenotype association studies of CYP2C19 have reported wide ranges in the metabolic ratios of its substrates. These discrepancies could be attributed to the variations in the promoter region and this aspect has been reported recently. The observations in the recent reports on the influence of promoter region variants on the metabolism of CYP2C19 substrates might also have been influenced by the copy number variations of CYP2C19. In this paper, we describe copy number variations of CYP2C19 using real-time polymerase chain reaction by comparative Ct method. No copy number variations were observed in the south Indian population indicating the observed discrepancies in genotype-phenotype association studies might be due to the regulatory region polymorphisms as reported earlier.

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