Rapid Diagnosis of α-Thalassemia by Melting Curve Analysis

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Rapid Diagnosis of α-Thalassemia by Melting Curve Analysis Thongperm Munkongdee, Phantip Vattanaviboon, Parichut Thummarati, Paijit Sewamart, Pranee Winichagoon, Suthat Fucharoen, Saovaros Svasti The Journal of Molecular Diagnostics Volume 12, Issue 3, Pages 354-358 (May 2010) DOI: 10.2353/jmoldx.2010.090136 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic representation of the α-globin gene cluster and relative positions of the seven primers used in the melting curve analysis. The black boxes indicate the extent of the α-thalassemia 1, −−SEA, and −−THAI deletions and α-thalassemia 2, −α3.7, and −α4.2 deletions. The Journal of Molecular Diagnostics 2010 12, 354-358DOI: (10.2353/jmoldx.2010.090136) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 The melting curves of the amplified α-thalassemia and normal PCR products representing −−SEA deletions, −−THAI deletions, α2-globin fragment, and Ψζ-globin fragment. These amplicons were differentiated according to their characteristic Tm. The Journal of Molecular Diagnostics 2010 12, 354-358DOI: (10.2353/jmoldx.2010.090136) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Examples of the melting curve analysis of individuals with various α-globin genotypes. A: Two peaks of α2-globin and Ψζ-globin fragments from normal globin genotype. B: Three peaks of α2-globin, −−SEA, and Ψζ-globin from SEA α-thalassemia 1 trait. C: Three peaks of −−THAI, α2-globin, and Ψζ-globin from Thai α-thalassemia 1 trait. D: A single peak of −−SEA from Hb Bart's hydrops fetalis. E: A single peak of −α3.7 from homozygous α-thalassemia 2. F: Two peaks of −−SEA and Ψζ-globin from deletional Hb H disease. G: Two peaks of −−THAI and Ψζ-globin from deletional Hb H disease. The Journal of Molecular Diagnostics 2010 12, 354-358DOI: (10.2353/jmoldx.2010.090136) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Replicated melting curve analysis of SEA α-thalassemia 1 trait. The Journal of Molecular Diagnostics 2010 12, 354-358DOI: (10.2353/jmoldx.2010.090136) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions