Advances in ligase chain reaction and ligation based amplifications for genotyping assays; detection and applications

Publication date: Available online 2 May 2017
Source:Mutation Research/Reviews in Mutation Research
Author(s): Abdullah A. Gibriel, Ola Adel
Single nucleotide polymorphisms (SNPs) are common genetic variants that have been reported to cause several genetic diseases. Various SNP genotyping screening assays were developed and implemented for diagnostic purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time savings. Since the discovery of ligase chain reaction (LCR) in the last decade of the 20th century, it became one of the most favored platforms for SNP genotyping. Recent and powerful modifications have been introduced to both LCR and ligation based amplifications to enable high-throughput and inexpensive multiplex genotyping with improved robustness, simplicity, sensitivity and specificity. In this article, classical and up to date modifications in LCR and ligation based amplifications are evaluated with particular emphases on the recently integrated detection strategies such as electrochemical and magnetic biosensors, nanoparticles, quantum dots, quartz crystal and leaky surface acoustic surface biosensors, DNAzyme, rolling circle amplification, strand displacement amplification, surface enhanced raman scattering, chemiluminescence and fluorescence resonance energy transfer. Sensitivity and limitation parameters for modified technologies are also discussed. Applications of these platforms in various fields such as genetic diseases detection, bacterial and viral pathogens detection, epigenetic mapping, nucleic acids assembly and miRNA detection are highlighted along with the successfully integrated technologies that have been commercialized for genotyping assays.



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