title: Rapid identification of HBB gene mutations by high-resolution melting analysis.
abstract: 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.
authors.affiliation: Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Hung-Chang
authors.initials: HC
authors.lastname: Shih
authors.forename: Tze-Kiong
authors.initials: TK
authors.lastname: Er
authors.forename: Tien-Jye
authors.initials: TJ
authors.lastname: Chang
authors.forename: Ya-Sian
authors.initials: YS
authors.lastname: Chang
authors.forename: Ta-Chih
authors.initials: TC
authors.lastname: Liu
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
mesh_terms: 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
chemical_list: D017931:DNA Primers; D006454:Hemoglobins