Genetic Disorders, Genotyping Techniques and the Emerging Role of Tetra-ARMS-PCR as a Diagnostic Tool
Minor deviations in the script of human life (the genetic code) are known to have major consequences on human health and well-being. Even substitution of a single nucleotide (single nucleotide polymorphism — SNP) in the gene sequences can cause diseases. SNP genotyping refers to a variety of techniq...
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| Veröffentlicht in: | Resonance 2021-09, Vol.26 (9), p.1229-1240 |
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| creator | Rahaman, Motiur Mukherjee, Mandrita Chakravorty, Nishant |
| description | Minor deviations in the script of human life (the genetic code) are known to have major consequences on human health and well-being. 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 genotyping 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 laboratories’ expectations. It is a fast, reliable, and economical method of genotyping for genetic diseases such as
β
-thalassemia. |
| doi_str_mv | 10.1007/s12045-021-1225-x |
| format | Article |
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| source | Indian Academy of Sciences; EZB-FREE-00999 freely available EZB journals; EBSCOhost Education Source; Free Full-Text Journals in Chemistry; SpringerLink Journals - AutoHoldings |
| subjects | Education General Article Humanities and Social Sciences multidisciplinary Science Science Education |
| title | Genetic Disorders, Genotyping Techniques and the Emerging Role of Tetra-ARMS-PCR as a Diagnostic Tool |
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