High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

Maria De Bonis, Elisa De Paolis, Giovanni Luca Scaglione, Luca Fania, Maria Michela Lavieri, Cinzia Mazzanti, Giovanni Di Zenzo, Angelo Minucci, Ettore Capoluongo

Research output: Contribution to journalArticle

Abstract

The ST18 -497-65050 T > C polymorphisms (rs17315309) exhibit a very strong association in the pathogenesis of Pemphigus Vulgaris (PV) and could represent a new potential molecular target for the treatment of disease. The present study aimed to establish a low-cost, sensitive and reliable assay using high-resolution melting curve analysis (HRMA) on magnetic induction rotor-based platform, the Magnetic Induction Cycler (MIC) (Bio molecular Systems). HRMA assay was able to identify easily and unambiguously the c.-497-65050 T > C genotypes evaluating melting curve shape and melting temperature (Tm). The results of HRMA were validated by direct DNA sequencing. The HRMA is rapid, sensitive, low-cost and high-throughput assay to screen the rs17315309 variant and could be used in clinical diagnostic laboratories.
Original languageEnglish
Pages (from-to)57-63
Number of pages7
JournalExperimental and Molecular Pathology
Volume108
DOIs
Publication statusPublished - Jun 2019

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