Investigation of clinical impacts of CNV in the pharmacokinetic-related genes

我们建立了一种新的CNV分析方法，并对健康志愿者和NSCLC患者的PK/PD相关基因进行了CNV分析。该方法采用实时荧光定量PCR和校准品载体，可高通量测定绝对拷贝数，有望应用于临床诊断。但是，必须考虑引物和探针的靶序列的定位。我们在PK/PD相关基因中发现了一些新的CNV。作为详细分析的结果，有些可能会改变基因的功能。CNV的临床影响应通过进一步研究来明确。

We developed a new method for the analysis of CNV, and analyzed of CNV in PK/PD-related genes in healthy volunteers and NSCLC patients. The new method, using real-time PCR and calibrator vector, was high-throughput to determine the absolute copy number, and it was expected to suit for the clinical diagnosis. But, it is necessary to take account of the localization of target sequence of primer and probes. We detected some new CNV in PK/PD related genes. As the result of the analysis in detail, some may change the function of the gene. The clinical impacts of CNV should be cleared by further investigations.