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

Cascella R1, Strafella C1, Ragazzo M1, Zampatti S1, Borgiani P1, Gambardella S2, Pirazzoli A3, Novelli G1, Giardina E4.

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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.The Pharmacogenomics Journal advance online publication, 9 September 2014; doi:10.1038/tpj.2014.48.