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Updated: Jun 21, 2026
Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
Published on: August 26, 2020
Rapid identification of HBB gene mutations by high-resolution melting analysis
Hung-Chang Shih1, Tze-Kiong Er, Tien-Jye Chang
1Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Objective:
This study was undertaken to identify HBB gene mutation.
Design And Methods:
Herein we evaluated high-resolution melting analysis in the identification of HBB mutations.
Results:
We have successfully established a diagnostic strategy for identifying HBB gene mutations including c.-78A>G, c.-79A>G, c.2T>G, c.79_80insT, c.84_85insC, c.123_124insT, c.125_128delTCTT, c.130 G>T, c.170G>A, c.216_217ins A and c.316-197 C>T from wild-type DNA using HRM analysis. The results of HRM analysis were confirmed by direct DNA sequencing.
Conclusions:
In summary, we report that HRM analysis is an appealing technique for the identification of HBB mutations. We also believe that HRM can be used as a method for prenatal diagnosis of beta-thalassemia.
