title: Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.
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.
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Cascella
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Strafella
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Ragazzo
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Zampatti
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Borgiani
authors.affiliation: Neuromed IRCCS, Pozzilli, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Gambardella
authors.affiliation: ViiV Healthcare, Verona, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pirazzoli
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.affiliation: 1] Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy [2] Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Giardina
mesh_terms: D003362:Cost-Benefit Analysis / Q000191:economics; D015224:Dideoxynucleosides / Q000627:therapeutic use; D004342:Drug Hypersensitivity / Q000235:genetics; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D005838:Genotype; D015658:HIV Infections / Q000188:drug therapy / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics*; D006801:Humans; D010597:Pharmacogenetics / Q000191:economics* / Q000379:methods*; D016133:Polymerase Chain Reaction / Q000191:economics* / Q000379:methods*; D018894:Reverse Transcriptase Inhibitors / Q000627:therapeutic use; D000099227:Abacavir
chemical_list: D015224:Dideoxynucleosides; D015235:HLA-B Antigens; D018894:Reverse Transcriptase Inhibitors; D000099227:Abacavir; C103707:HLA-B57 antigen