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Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions.

Published byVera Sasmita Modified over 5 years ago

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Presentation on theme: "Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions."— Presentation transcript:

1 Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human α-Globin Gene Cluster  Benjamin R. Kipp, Samantha E. Roellinger, Patrick A. Lundquist, W. Edward Highsmith, D. Brian Dawson  The Journal of Molecular Diagnostics  Volume 13, Issue 5, Pages (September 2011) DOI: /j.jmoldx Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Location of MLPA probes (probes 6 to 20) and corresponding different-sized deletions that were observed during clinical testing within our laboratory. Probes 1 to 5 are excluded from this figure because they represent control/gender probes specific for other chromosomal regions that are not located within the α-globin gene cluster. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Matched PCR (top) and MLPA results (middle) from nine specimens labeled A–I. Probes 1 to 4 (in small boxes, in panels A–I) represent control probes targeting chromosomes 1p22, 3p22, 12p13, and 22q11, respectively. Probe 5 (circled) represents the gender probe targeting Xp21. The remaining 15 probes (probes 6 to 20) target the α-globin gene cluster. MLPA probes 6 to 20 and 3.7-kb/4.2-kb PCR primer targets are shown at the bottom of the figure. Het, heterozygous; Hom, homozygous. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 MLPA results representing eight unique deletions. Probes 1 to 4 (in small boxes, in panels A–H) represent control probes targeting chromosomes 1p22, 3p22, 12p13, and 22q11, respectively. Probe 5 (circled) represents the gender probe targeting Xp21. The remaining 15 probes (probes 6 to 20) target the α-globin gene cluster as shown at the bottom of the figure. *αα/(αα)T = deletion in MCS-R2 regulatory region. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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