Rapid identification of HBB gene mutations by high-resolution melting analysis.
OBJECTIVE
This study was undertaken to identify HBB gene mutation.


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.
Shih
Hung-Chang
HC
Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Er
Tze-Kiong
TK
Chang
Tien-Jye
TJ
Chang
Ya-Sian
YS
Liu
Ta-Chih
TC
Chang
Jan-Gowth
JG
D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000235:genetics
D017931:DNA Primers; D006454:Hemoglobins