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

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Presentation transcript:

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 549-557 (September 2011) DOI: 10.1016/j.jmoldx.2011.04.001 Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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 2011 13, 549-557DOI: (10.1016/j.jmoldx.2011.04.001) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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 2011 13, 549-557DOI: (10.1016/j.jmoldx.2011.04.001) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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 2011 13, 549-557DOI: (10.1016/j.jmoldx.2011.04.001) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions