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

xlomafota13 shared this article with you from Inoreader Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis Via Experimental and therapeutic medicine 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 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.