RESUMEN

HLA-A*31:01 and HLA-B*15:02 have been widely reported to confer genetic susceptibility to carbamazepine (CBZ)-induced severe cutaneous adverse reactions (SCARs). Accordingly, the screening for these alleles has been highly recommended to prevent SCAR prior to introducing CBZ therapy. Although a number of methods are available for screening of HLA-A*31:01 or HLA-B*15:02 alleles separately, developing an assay that can detect both these alleles would be more clinically practical, cost-effective and less time-consuming. Therefore, in this study, a multiplex polymerase chain reaction (PCR) using TaqMan Probe was designed and validated to be able to detect HLA-A*31:01 and HLA-B*15:02. In comparison with Luminex-SSO/SBT/SSB, the multiplex PCR assay for detection of HLA-A*31:01 and HLA-B*15:02 had a perfect agreement in the validation group of 125 samples. The method was able to detect the target genes at the DNA concentration of 0.037 ng/µL. The unit cost of this assay is less than $5 USD with total time of 110 minutes.

Asunto(s)

Anticonvulsivantes/efectos adversos , Carbamazepina/efectos adversos , Síndrome de Hipersensibilidad a Medicamentos/genética , Antígenos HLA-A/genética , Antígeno HLA-B15/genética , Reacción en Cadena de la Polimerasa Multiplex/métodos , Síndrome de Stevens-Johnson/genética , Alelos , Secuencia de Bases , Síndrome de Hipersensibilidad a Medicamentos/diagnóstico , Síndrome de Hipersensibilidad a Medicamentos/etiología , Síndrome de Hipersensibilidad a Medicamentos/inmunología , Expresión Génica , Predisposición Genética a la Enfermedad , Antígenos HLA-A/inmunología , Antígeno HLA-B15/inmunología , Humanos , Límite de Detección , Reacción en Cadena de la Polimerasa Multiplex/economía , Reproducibilidad de los Resultados , Alineación de Secuencia , Piel/efectos de los fármacos , Piel/inmunología , Piel/patología , Síndrome de Stevens-Johnson/diagnóstico , Síndrome de Stevens-Johnson/etiología , Síndrome de Stevens-Johnson/inmunología