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Αλέξανδρος Γ. Σφακιανάκης

Thursday, March 11, 2021

Rapid screening of UPB1 gene variations by high resolution melting curve analysis

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Exp Ther Med. 2021 Apr;21(4):403. doi: 10.3892/etm.2021.9834. Epub 2021 Feb 25.

ABSTRACT

The present study aimed to analyze gene mutations in patients with β-ureidopropinoase deficiency and establish a rapid detection method for β-ureidopropinoase (UPB1) pathogenic variations by high resolution melting (HRM) analysis. DNA samples with known UPB1 mutations in three patients with β-ureidopropinoase deficiency were utilized to establish a rapid detection method for UPB1 pathogenic variations by HRM analysis. Further rapid screening was performed on two patients diagnosed with β-ureidopropinoase deficiency and 50 healthy control individuals. The results showed that all known UPB1 gene mutations can be analyzed by a specially designed HRM assay. Each mutation has specific HRM profiles which could be used in rapid screening. The HRM method could correctly identify all genetic mutations in two children with β- ureidopropinoase deficiency. In addition, the HRM assay also recognized four unknown mutations. To conclude, the results support future studies of applying HRM analysis as a diagnostic approach for β-ureidopropinoase deficiency and a rapid screening method for UPB1 mutation carriers.

PMID:33692834 | PMC:PMC7938451 | DOI:10.3892/etm.2021.9834

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