Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01

Pharmacogenomics J. 2015 Apr;15(2):196-200. doi: 10.1038/tpj.2014.48. Epub 2014 Sep 9.

Abstract

One of the most successful applications of pharmacogenetics research is the genetic screening for HLA-B*57:01, strongly associated with an increased risk to develop hypersensitivity reaction in HIV-positive patients following abacavir administration. Taking into consideration the limits of current genotyping methodologies, we have developed and validated (150 buccal swabs) an inexpensive pharmacogenetic approach for HLA-B*57:01 typing. In our assay DNA extraction and amplification are combined in one single step (direct PCR protocol), which is performed directly on the biological sample without the need of extraction and sequencing passages. The amplicons obtained by direct PCR can be easily separated on the agarose gel under ultraviolet. As per our results, the direct PCR represents a good alternative to the traditional methods of HLA-B*57:01 pharmacogenetic test, especially for those laboratories or countries where currently available approaches are often not available or not affordable. Furthermore it is an innovative approach, promoting a personalized, safer and cost-effective therapy.

MeSH terms

  • Cost-Benefit Analysis / economics
  • Dideoxynucleosides / therapeutic use
  • Drug Hypersensitivity / genetics
  • Genetic Testing / economics
  • Genetic Testing / methods
  • Genotype
  • HIV Infections / drug therapy
  • HIV Infections / genetics
  • HLA-B Antigens / genetics*
  • Humans
  • Pharmacogenetics / economics*
  • Pharmacogenetics / methods*
  • Polymerase Chain Reaction / economics*
  • Polymerase Chain Reaction / methods*
  • Reverse Transcriptase Inhibitors / therapeutic use

Substances

  • Dideoxynucleosides
  • HLA-B Antigens
  • HLA-B57 antigen
  • Reverse Transcriptase Inhibitors
  • abacavir