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.
Highlights
In recent years the knowledge of the wide human genome variability has been even connected to the different individual drug response
In order to promote the availability of this test even in less industrialized countries, here we show a new protocol for HLA-B*57:01 test enabling the genotyping at o 1 euro each
These data were consistent with the genotypes identified by nested PCR and confirmed its ability to discriminate really positive HLAB*57:01 subjects from individuals carrying different alleles; even those belonging to HLA-B*57 subtype, but not associated with the risk for ABC hypersensitivity reaction (HSR)
Summary
In recent years the knowledge of the wide human genome variability has been even connected to the different individual drug response. ABC effectiveness has been demonstrated to be higher in combination with other antiretroviral drugs, such as lamivudine and zidovudine.[9] Despite its elevated efficiency, ABC is not usually preferred due to the risk for developing HSR This adverse reaction affects about 5% of treated patients within the first 6 weeks of treatment. It is a multiorgan syndrome characterized by gastrointestinal and respiratory symptoms, fever, rush and even death in case of ABC rechallenge.[10] A very extensive research have documented the strong association between HSR to ABC in relation to the HLA-B*57:01 allele.[8,11,12,13]. In order to promote the availability of this test even in less industrialized countries, here we show a new protocol for HLA-B*57:01 test enabling the genotyping at o 1 euro each
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