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

Xiaowei Xu; Jie Zheng; Qianqian Zou; Chao Wang; Xinjie Zhang; Xuetao Wang; Yang Liu; Jianbo Shu

doi:10.3892/etm.2021.9834

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

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

Authors

Xiaowei Xu^{1

2}, Jie Zheng³, Qianqian Zou³, Chao Wang^{1

2}, Xinjie Zhang^{1

2}, Xuetao Wang^{1

2}, Yang Liu⁴, Jianbo Shu^{1

2}

Affiliations

¹ Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, P.R. China.
² Tianjin Key Laboratory of Prevention and Treatment of Birth Defects, Tianjin Children's Hospital, Tianjin 300134, P.R. China.
³ Graduate College, Tianjin Medical University, Tianjin 300070, P.R. China.
⁴ Department of Neonatology, Tianjin Children's Hospital, Tianjin 300134, P.R. China.

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.

Keywords: diagnosis; high resolution melting analysis; β-ureidopropinoase; β-ureidopropinoase deficiency.

Grants and funding

Funding: The present study was supported by the Natural Science Foundation of Tianjin City (grant no. 16JCQNJC11900), the National Natural Science Foundation of China (grant no. 81771589), the Program of Tianjin Science and Technology Plan (grant no. 18ZXDBSY00170) and the Program of Tianjin Health Bureau (grant no. 2014KZ031).