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Homozygous Transthyretin Mutation in an African American Male

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Presentation on theme: "Homozygous Transthyretin Mutation in an African American Male"— Presentation transcript:

1 Homozygous Transthyretin Mutation in an African American Male
Eapen K. Jacob, William D. Edwards, Mark Zucker, Cyril D'Cruz, Surya V. Seshan, Frank W. Crow, W. Edward Highsmith  The Journal of Molecular Diagnostics  Volume 9, Issue 1, Pages (February 2007) DOI: /jmoldx Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 The left panel demonstrates the typical red-orange appearance of amyloid when stained with Congo red. The image on the right panel shows the classic apple-green birefringence of amyloid when viewed with cross-polarized filters. The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

3 Figure 2 Transmission electron microscopy of endomyocardial biopsy tissue. Fine fibrillar deposits arranged are in a haphazard manner with cross-sections ranging in size from 8 to 12 nm (×77,500). The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

4 Figure 3 Mass spectroscopy data. A: Normal transthyretin control. B: Heterozygous transthyretin control, Gly6Ser. C: Patient sample. The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

5 Figure 4 Bidirectional sequencing of transthyretin exon 4 shows a point mutation at codon 122, leading to isoleucine replacing valine. The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions


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