Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

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Presentation transcript:

Development of a Rapid, Reliable Genetic Test for Pseudoxanthoma Elasticum Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G. Bercovitch, Gary F. Gerard The Journal of Molecular Diagnostics Volume 9, Issue 1, Pages 105-112 (February 2007) DOI: 10.2353/jmoldx.2007.060093 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Nuclease mutation detection involves four steps: 1) nested PCR amplification of ABCC6 gene exons from the sample and normal reference genomic DNA; 2) self-hybridization of the sample DNA and cross-hybridization with normal reference DNA to form DNA heteroduplexes by heating and gradual cooling; 3) Surveyor nuclease digestion to cleave the mismatches in the heteroduplexes; and 4) mutation fragment analysis by agarose gel electrophoresis. The Journal of Molecular Diagnostics 2007 9, 105-112DOI: (10.2353/jmoldx.2007.060093) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Mutation detection in PXE exon 24 by nuclease digestion and agarose gel electrophoresis. Amplified, hybridized DNAs were digested with Surveyor nuclease, and digestion products were analyzed by agarose gel electrophoresis (see Materials and Methods). In A, the samples were cross-hybridized with normal DNA, and in B, the samples were self-hybridized. Patient samples coded 1 to 16 were run in correspondingly numbered lanes. Digested normal DNA was run in lane 0, and 100-bp DNA ladder in lane M. Arrows indicate mutation cleavage fragments. The Journal of Molecular Diagnostics 2007 9, 105-112DOI: (10.2353/jmoldx.2007.060093) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Mutation detection in PXE exon 28 by nuclease digestion and agarose gel electrophoresis. Amplified, hybridized DNAs were digested with Surveyor nuclease, and digestion products were analyzed by agarose gel electrophoresis (see Materials and Methods). In A, the samples were cross-hybridized with normal DNA, and in B, the samples were self-hybridized. Patient samples coded 1 to 16 were run in the correspondingly numbered lanes. Digested normal DNA was run in lane 0, and 100-bp DNA ladder in lane M. Arrows indicate genetic variation cleavage fragments. The Journal of Molecular Diagnostics 2007 9, 105-112DOI: (10.2353/jmoldx.2007.060093) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Detection of PXE ex23_ex29del mutations by PCR and agarose gel electrophoresis of amplified DNA fragments. Patient samples coded 1 to 16 were run in the correspondingly numbered lanes. Normal DNA is designated 0, and 100-bp DNA ladder is M. Arrows indicate samples having a PCR product generated from a deletion mutation. The Journal of Molecular Diagnostics 2007 9, 105-112DOI: (10.2353/jmoldx.2007.060093) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions