Detalle de: Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †

Single nucleotide polymorphism (SNP) involves plenty of genetic disorders in organisms that can be passed down to the next generation or cause the stimulant signal that leads to early mortality in infants, especially within humankind. In medical field, real-time polymerase chain reaction (RT-PCR) is the most popular method for disease diagnosis. The investigation of genetic maps for the prediction of inherited illnesses needs the collaboration of sequencing technique and genome analysis. Although these methods are popular now, the cost for each test is quite high. Moreover, there is the requirement of extra machines and skillful technician or specialist level. Among these popular methods, the allele-specific polymerase chain reaction (AS-PCR), allele-specific loop isothermal mediated amplification (AS-LAMP), and allele-specific recombinase polymerase amplification (AS-RPA) are brought up for screening the nucleotide differences in the genetic sequence which will be noticed in this review as their availability, novelty, and potential for quick distinguishing of disease caused by SNP. Point-of-care testing (POCT) is a system built in a portable size but can perform the entire process of SNP recognition. Along with that, the POCT is intersected with the mentioned amplification methods and the genetic material preparation steps to become a united framework for higher efficiency and accuracy and lower cost. According to that, this review will focus on three common amplification techniques and their combination with POCT in the upstream and downstream process to genotype SNP related to human diseases.