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

ABSTRACT: The present study aimed to analyze gene mutations in patients with ?-ureidopropinoase deficiency and establish a rapid detection method for ?-ureidopropinoase (UPB1) pathogenic variations by high resolution melting (HRM) analysis. DNA samples with known UPB1 mutations in three patients with ?-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 ?-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 ?-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 ?-ureidopropinoase deficiency and a rapid screening method for UPB1 mutation carriers.

SUBMITTER: Xu X 

PROVIDER: S-EPMC7938451 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature