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

  • Authors:
    • Xiaowei Xu
    • Jie Zheng
    • Qianqian Zou
    • Chao Wang
    • Xinjie Zhang
    • Xuetao Wang
    • Yang Liu
    • Jianbo Shu
  • View Affiliations / Copyright

    Affiliations: Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, P.R. China, Graduate College, Tianjin Medical University, Tianjin 300070, P.R. China, Department of Neonatology, Tianjin Children's Hospital, Tianjin 300134, P.R. China
    Copyright: © Xu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 403
    |
    Published online on: February 25, 2021
       https://doi.org/10.3892/etm.2021.9834
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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.
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Copy and paste a formatted citation
Spandidos Publications style
Xu X, Zheng J, Zou Q, Wang C, Zhang X, Wang X, Liu Y and Shu J: Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis. Exp Ther Med 21: 403, 2021.
APA
Xu, X., Zheng, J., Zou, Q., Wang, C., Zhang, X., Wang, X. ... Shu, J. (2021). Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis. Experimental and Therapeutic Medicine, 21, 403. https://doi.org/10.3892/etm.2021.9834
MLA
Xu, X., Zheng, J., Zou, Q., Wang, C., Zhang, X., Wang, X., Liu, Y., Shu, J."Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis". Experimental and Therapeutic Medicine 21.4 (2021): 403.
Chicago
Xu, X., Zheng, J., Zou, Q., Wang, C., Zhang, X., Wang, X., Liu, Y., Shu, J."Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis". Experimental and Therapeutic Medicine 21, no. 4 (2021): 403. https://doi.org/10.3892/etm.2021.9834
Copy and paste a formatted citation
x
Spandidos Publications style
Xu X, Zheng J, Zou Q, Wang C, Zhang X, Wang X, Liu Y and Shu J: Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis. Exp Ther Med 21: 403, 2021.
APA
Xu, X., Zheng, J., Zou, Q., Wang, C., Zhang, X., Wang, X. ... Shu, J. (2021). Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis. Experimental and Therapeutic Medicine, 21, 403. https://doi.org/10.3892/etm.2021.9834
MLA
Xu, X., Zheng, J., Zou, Q., Wang, C., Zhang, X., Wang, X., Liu, Y., Shu, J."Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis". Experimental and Therapeutic Medicine 21.4 (2021): 403.
Chicago
Xu, X., Zheng, J., Zou, Q., Wang, C., Zhang, X., Wang, X., Liu, Y., Shu, J."Rapid screening of <em>UPB1</em> gene variations by high resolution melting curve analysis". Experimental and Therapeutic Medicine 21, no. 4 (2021): 403. https://doi.org/10.3892/etm.2021.9834
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