Rapid identification of HBB gene mutations by high-resolution melting analysis

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_128deITCTT, 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. (C) 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.