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_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.