Year: 2021
Type: article
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.
Authors: Xiaowei Xu, Jie Zheng, Qianqian Zou, Chao Wang, Xinjie Zhang, Xuetao Wang, Yang Liu, Jianbo Shu
Institutions: Tianjin Children's Hospital, Tianjin Medical University
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
Awards: G2099209581, G363494064, G5153526953
OpenAlex ID: W3129439746