Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay Karen M. Schwartz, Lisa L. Pike-Buchanan, Kasinathan.

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Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay Karen M. Schwartz, Lisa L. Pike-Buchanan, Kasinathan Muralidharan, Joy B. Redman, Jean Amos Wilson, Michael Jarvis, M. Grace Cura, Victoria M. Pratt The Journal of Molecular Diagnostics Volume 11, Issue 3, Pages 211-215 (May 2009) DOI: 10.2353/jmoldx.2009.080106 Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 A: A normal electropherogram pattern for no mutation detected. B: The electropherogram in which the 3849 + 10kb C>T peak is missing. C: The electropherogram in which the 621 + 1G>T peak is missing. D: The electropherogram in which the 1078delT peak is missing. E: The electropherogram in which the R117H peak is missing (a slight background peak is present). F: The electropherogram in which the V520F peak is missing. Red arrows indicate missing peaks. The Journal of Molecular Diagnostics 2009 11, 211-215DOI: (10.2353/jmoldx.2009.080106) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Electropherogram in which the normal peak for F508del is missing (red arrow). The pattern is consistent with an individual who is homozygous for F508del. The Journal of Molecular Diagnostics 2009 11, 211-215DOI: (10.2353/jmoldx.2009.080106) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions