Clin Chem:一种简单、通用、经济的数字PCR方法用于拷贝数变异的目标分析

2019-10-19 gladiator MedSci原创

罕见拷贝数变异(CNVs)是遗传疾病的主要原因之一。确认和分离分析CNVs需要一种简单的靶向方法。在此,我们开发了一种简单而通用的基于数字PCR (dPCR)和通用锁相核酸(LNA)水解探针的CNV检测方法。

罕见拷贝数变异(CNVs)是遗传疾病的主要原因之一。确认和分离分析CNVs需要一种简单的靶向方法。在此,我们开发了一种简单而通用的基于数字PCR (dPCR)和通用锁相核酸(LNA)水解探针的CNV检测方法。

本研究对来自罗氏通用探针公司(Roche Universal ProbeLibrary, UPL)90LNA水解探针的图谱进行分析。对于每个CNV,最佳引物和LNA探针的选择几乎均是自动化的;探针在各种检测中重复使用,每个dPCR检测包括CNV扩增子和一个参考扩增子。我们评估了93个小型和大型CNVs的分析性能,并进行了成本-效率比较分析。

UPL-LNA探针在人类基因组中出现近2000万次,平均间隔156 bp,分布均匀。除1(<200 bp),变异系数<10%外,其余93例均检测准确。该方法比其他方法更经济有效。

通用dPCR CNV测定简单、稳定、有成本效益的。这种方法应该成为基因组医学的有用工具,因为它仅需要简单的方法就可解释和分离分析基因组变异。

原始出处:

Kévin Cassinari, Olivier Quenez,A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

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    2019-10-21 Tommy1950

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