Steven F. Dobrowolski, Richard A. Banas, Joseph G

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Presentation transcript:

Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene Steven F. Dobrowolski, Richard A. Banas, Joseph G. Suzow, Michelle Berkley, Edwin W. Naylor The Journal of Molecular Diagnostics Volume 5, Issue 1, Pages 42-47 (February 2003) DOI: 10.1016/S1525-1578(10)60450-3 Copyright © 2003 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 A–E: In A–C (N314D, Q188R, S135L) specimens that are wild-type, heterozygous, homozygous mutant, and a no DNA control are displayed. In D–E specimens that are wild-type, heterozygous, and a no DNA control are displayed. The Journal of Molecular Diagnostics 2003 5, 42-47DOI: (10.1016/S1525-1578(10)60450-3) Copyright © 2003 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Hybridization probes to detect GALT mutations by fluorescence resonance energy transfer and melting curve analysis. Detection probes are framed while anchor probes are highlighted. All detection probes match the mutant sequence. The mutated nucleotide is shown in bold font on the sense strand and the wild-type nucleotide is shown in parenthesis above the mutated nucleotide. The detection probes for the N314D and Q188R assays are labeled 5′ with LC red 640 and 3′ phosphorylated, while the detection probes for S135L, K285N, and L195P are labeled 3′ with FITC. Anchor probes for the N314D and Q188R assays are labeled 3′ with FITC, while the anchor probes for S135L, K285N, and L195P are labeled 5′ with LC red 640 and 3′ phosphorylated. The Journal of Molecular Diagnostics 2003 5, 42-47DOI: (10.1016/S1525-1578(10)60450-3) Copyright © 2003 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions