Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).
CYP24A1 gene
Duplex assay
High resolution melting analysis
Idiopathic Infantile Hypercalcemia
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
18
02
2021
accepted:
27
03
2021
pubmed:
18
4
2021
medline:
30
9
2021
entrez:
17
4
2021
Statut:
ppublish
Résumé
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 (T
Identifiants
pubmed: 33864587
doi: 10.1007/s11033-021-06324-x
pii: 10.1007/s11033-021-06324-x
pmc: PMC8172411
doi:
Substances chimiques
CYP24A1 protein, human
EC 1.14.15.16
Vitamin D3 24-Hydroxylase
EC 1.14.15.16
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3303-3311Références
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