A miniaturised integrated biophotonic point-of-care genotyping system

Abstract

This paper reports the development of a novel genotyping device specifically designed for point-of-care applications. As the results of the human genome project are applied to clinical practice there is an increasing requirement for simple to operate high-speed, potentially low-cost genotyping devices for use in the clinic. The aim of such devices is not to specifically detect a full gene sequence but to monitor the presence of specific Single Nucleotide Polymorphisms (SNPs). The instrument is designed to fulfil this specific clinical requirement. Using a FRET-based assay the instrument completes a full PCR process and then performs a melting point test to determine the exact SNPs present in the sample. Results are presented in which the instrument produces results within 18 min based upon saliva samples provided by the patient. The paper also reports successful results both with purified DNA samples and saliva-based samples which were taken from subjects after experiments deliberately aimed at confusing the instrument.