• Genetic Disorders, Genotyping Techniques and the Emerging Role of Tetra-ARMS-PCR as a Diagnostic Tool

• # Fulltext

https://www.ias.ac.in/article/fulltext/reso/026/09/1229-1240

• # Keywords

Genotype, genetic disorders, SNPs, diagnostics, sequencing, polymerase chain reaction, ARMS-PCR.

• # Abstract

Minor deviations in the script of human life (the genetic code) are known to have major consequences on human health and wellbeing. Even substitution of a single nucleotide (single nucleotide polymorphism – SNP) in the gene sequences can cause diseases. SNP genotyping refers to a variety of techniques that allow simultaneous detection of such changes that can be associated with the pathophysiology of diﬀerent diseases. However, most of the current, cutting-edge SNP geno-typing technologies are complex, expensive, and require post-PCR manipulation. The Tetra–Ampliﬁcation-Refractory Mutation System–Polymerase Chain Reaction (T-ARMS-PCR) method is a simple tool that meets modern diagnostic labo-ratories’ expectations. It is a fast, reliable, and economical method of genotyping for genetic diseases such as $\beta$-thalassemia.

• # Author Affiliations

1. School of Medical Science and Technology IIT Kharagpur Paschim Medinipur West Bengal 721 302, India.

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