Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
| Autor: | Giorgia Mazzuccato, Andrea Urbani, Pietro Manuel Ferraro, Elisa De Paolis, Antonio Gatto, Angelo Minucci, Maria Elisabetta Onori, Maria De Bonis, Pietro Ferrara |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty High resolution melting analysis Melting temperature DNA Mutational Analysis 030232 urology & nephrology Hot spot (veterinary medicine) Sensitivity and Specificity Infant Newborn Diseases Melting curve analysis High Resolution Melt 03 medical and health sciences 0302 clinical medicine CYP24A1 Genetics medicine Humans Infantile hypercalcemia Child Vitamin D3 24-Hydroxylase Molecular Biology business.industry General Medicine Patient management Duplex assay 030104 developmental biology CYP24A1 gene Duplex (building) Mutation cardiovascular system Hypercalcemia Original Article Radiology business Idiopathic Infantile Hypercalcemia Metabolism Inborn Errors |
| Zdroj: | Molecular Biology Reports |
| ISSN: | 1573-4978 0301-4851 |
| DOI: | 10.1007/s11033-021-06324-x |
| Popis: | Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A duplex-HRMA (dHRMA) was designed in order to detect simultaneously CYP24A1 c.428_430delAAG, p.(Glu143del) (rs777676129) and c.1186C > T, p.(Arg396Trp) (rs114368325), in peculiar cases addressed to our Laboratory. dHRMA was able to identify clearly and simultaneously both hot spot CYP24A1 PVs evaluating melting curve shape and melting temperature (Tm). This is the first dHRMA approach to rapidly screen the two most frequent CYP24A1 PVs in peculiar case, providing useful information for diagnosis and patient management in IIH disease. |
| Databáze: | OpenAIRE |
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