Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA Hidekazu Horiuchi, Ayako Sasaki, Motoki.

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Presentation transcript:

Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA Hidekazu Horiuchi, Ayako Sasaki, Motoki Osawa, Kazuki Kijima, Yukiko Ino, Ryoji Matoba, Kiyoshi Hayasaka The Journal of Molecular Diagnostics Volume 7, Issue 5, Pages 638-640 (November 2005) DOI: 10.1016/S1525-1578(10)60598-3 Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Polyacrylamide gel electrophoresis of typical PCR products obtained for the polyalanine tract of PHOX2B using the deaminated DNA as a template. The gel is stained with ethidium bromide. Lane L, 10-bp ladder; lane 1, homozygous 20-residue repeat; lane 2, heterozygous 13-residue repeat; lane 3, heterozygous 15-residue repeat; lane 4, homozygous 15-resiude repeat; and lanes 5 to 14, the 10 CCHS cases corresponding to those in the previous analysis.5 The Journal of Molecular Diagnostics 2005 7, 638-640DOI: (10.1016/S1525-1578(10)60598-3) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Nucleotide sequence of the converted DNA at the common 20-residue polyalanine tract. The sequence of a subcloned fragment is shown to demonstrate the replacement of C to T more clearly. Arrows indicate the converted T after bisulfite treatment. The Journal of Molecular Diagnostics 2005 7, 638-640DOI: (10.1016/S1525-1578(10)60598-3) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions