Agilent Detection of a point mutation in the prothrombin gene with the Agilent 2100 bioanalyzer Application Note

Update: 30 September, 2023

This application note describes how the Agilent 2100 bioanalyzer can be used for the detection of a point mutation in the human prothrombin gene. The prothrombin protein plays a key role in blood clotting. A single nucleotide polymorphism (SNP), i.e. a point mutation in the prothrombin gene results in a common hereditary predisposition to venous thrombosis. We present a convenient and reliable mutation detection method by a PCR-based assay including a specific restriction digest (PCR-RFLP). Due to its high sensitivity and resolution, the applied microfluidic assay proves to be extremely suitable for detec- tion of the obtained PCR products and restriction fragments. The developed method is suitable for the workflow at Laborigo molecular diagnostic laboratory.

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MD5 Checksum: BD6C7369240541E44597DDC0C4375E67

Publication date: 02 July, 2012

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PDF Link: Agilent Detection of a point mutation in the prothrombin gene with the Agilent 2100 bioanalyzer Application Note PDF