Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243.

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Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 A>G and Myoclonic Epilepsy Associated with Ragged-Red Fibers MTTK 8344A>G) by Real-Time Polymerase Chain Reaction Hongxin Fan, Chris Civalier, Jessica K. Booker, Margaret L. Gulley, Thomas W. Prior, Rosann A. Farber The Journal of Molecular Diagnostics Volume 8, Issue 2, Pages 277-281 (May 2006) DOI: 10.2353/jmoldx.2006.050066 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Mutation detection by real-time PCR and melting curve analysis using hybridization probes targeting normal or mutant DNA. A: Sequence of the MELAS MTTL1 region. B: Sequence of the MERRF MTTK region. The sites of the mutations are indicated in bold, and the sequences corresponding to the probes are underlined. Note that the sensor probe for MTTLl is in the antisense orientation and is complementary to the mutant sequence, whereas the sensor probe for MTTK is in the sense orientation and is complementary to the normal sequence. The Journal of Molecular Diagnostics 2006 8, 277-281DOI: (10.2353/jmoldx.2006.050066) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Melting curves for MELAS MTTL1 3243A>G normal (n = 1) and mutant (n = 3) samples (A) and a dilution series with MELAS MTTL1 3243A>G and normal DNA (B). Melting temperatures are 60°C for mutant DNA and 51°C for normal. Melting curves for MERRF MTTK8344A>G normal (n = 1) and mutant (n = 3) samples (C) and a dilution series with MERRF MTTK8344A>G and normal DNA (D). Melting temperatures are 55°C for mutant DNA and 61°C for normal. The percentages in B and D indicate the relative amounts of a mutant patient sample mixed in with a normal DNA sample. The Journal of Molecular Diagnostics 2006 8, 277-281DOI: (10.2353/jmoldx.2006.050066) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions