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Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
Published on: September 25, 2018
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Solid-phase recombinase polymerase amplification using ferrocene-labelled dNTPs for electrochemical detection of
Mayreli Ortiz1, Miriam Jauset-Rubio1, David Kodr2
1Departament d'Enginyeria Química, Universitat Rovira i Virgili, Avinguda Països Catalans 26, 43007, Tarragona, Spain.
Biosensors & Bioelectronics
|November 28, 2021
Summary
This study developed a novel electrochemical platform to detect hypertrophic cardiomyopathy (HCM)-associated single nucleotide polymorphisms (SNPs) in MYH7 gene from fingerprick blood. The assay accurately identifies SNPs using minimal DNA, offering a promising diagnostic tool for HCM.
Area of Science:
- Biomedical Engineering
- Molecular Diagnostics
- Cardiovascular Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young individuals.
- An estimated 1 in 500 people are affected by HCM.
- Genetic mutations, particularly in the MYH7 gene, are strongly associated with HCM.
Purpose of the Study:
- To develop an electrochemical platform for detecting HCM-associated single nucleotide polymorphisms (SNPs).
- To enable detection using small-volume fingerprick blood samples.
- To provide a rapid and accurate diagnostic method for HCM genetic screening.
Main Methods:
- Development of an electrochemical array with gold electrodes.
- Immobilization of thiolated reverse primers with variable bases.
- Utilizing isothermal solid-phase primer elongation with recombinase polymerase amplification (RPA).
- Incorporation of ferrocene-labelled nucleoside triphosphates for signal detection.
Main Results:
- Successful discrimination of HCM-associated SNPs in the MYH7 gene.
- Assay validated on fingerprick blood samples from eight individuals.
- Results showed strong correlation with next-generation sequencing data.
- Demonstrated robust SNP detection at low femtomolar DNA concentrations (approx. 8 × 10^5 copies).
Conclusions:
- The developed electrochemical platform offers a sensitive and specific method for HCM SNP detection.
- The assay's ability to use fingerprick blood samples enhances accessibility for genetic screening.
- This technology holds potential for early diagnosis and management of hypertrophic cardiomyopathy.
