Italy: Pemphigus Vulgaris

High-Resolution Melting Analysis to screen the ST18 Gene functional risk variant for Pemphigus Vulgaris

Maria De Bonis, Elisa De Paolis^, Giovanni Luca Scaglione, Luca Fania, Maria Michela Lavieri, Cinzia Mazzanti, Giovanni Di Zenzo, Angelo Minucci, Ettore Capoluongo  | UOC Laboratory Medicine, Genetics and Toxicology; Department of Dermatology; Unit of; Molecular and Cell Biology Laboratory – IDI-IRCCS, FLMM, Fondazione Luigi Maria Monti, Via Monti di Creta 104, Rome, Italy; Polo Scienze per Immagini, di Laboratorio e Infettivologiche, “Agostino Gemelli” Foundation IRCCS, Rome, Italy | 2018

Pemphigus vulgaris (PV) is an autoimmune bullous disease that causes painful blistering of the skin. The study performed a High-Resolution Melting (HRM) assay that was conducted on the MIC to screen the ST18rs17315309 variant in PV patients. The HRM assay was highly sensitive and easily identified the c.497-65050T>C genotypes.