A review of methods for detecting single-nucleotide polymorphisms in the Toll-like receptor gene family

Biomark Med. 2021 Sep;15(13):1187-1198. doi: 10.2217/bmm-2021-0077. Epub 2021 Aug 17.

Abstract

The Toll-like receptors play an essential role in immunity through targeting the pathogen-associated molecular patterns. Nucleotide variations in TLR genes, especially single-nucleotide polymorphisms, have been shown to alter host immune susceptibility to several infections and diseases. Since TLR genes' polymorphisms can be a promising biomarker, ongoing investigations aim to develop, optimize and validate SNP detection methods. This review discusses various TLR SNP detection methods, either used extensively or occasionally, but having a vast potential in high-throughput settings. Methods such as PCR-restriction fragment length polymorphism, TaqMan® assay, direct sequencing and matrix-assisted laser desorption ionization - time of flight mass spectroscopy MS are frequently used methods whereas Illumina GoldenGate® assay, reverse hybridization technology, PCR-confronting two-pair primers, KBiosciences KASPar® SNP assay, SNP stream®, PCR-fluorescence hybridization and SNaPshot® are powerful but sporadically used methods. We suggest that, for individual laboratories, the detection method of choice depends on a combination of factors such as throughput volume, reproducibility, feasibility and cost-effectiveness.

Keywords: detection methods; single-nucleotide polymorphisms; toll-like receptor genes.

Publication types

  • Review

MeSH terms

  • Feasibility Studies
  • Genotyping Techniques / methods
  • Humans
  • Multigene Family*
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Restriction Fragment Length*
  • Polymorphism, Single Nucleotide*
  • Polymorphism, Single-Stranded Conformational*
  • Reproducibility of Results
  • Sequence Analysis, DNA / methods
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / methods
  • Toll-Like Receptors / genetics*

Substances

  • Toll-Like Receptors