Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

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Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B. Redman, Weimin Sun, Charles M. Strom The Journal of Molecular Diagnostics Volume 11, Issue 3, Pages 253-256 (May 2009) DOI: 10.2353/jmoldx.2009.080117 Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Detection of compound heterozygosity for CF 40-kb del 4-10/1220del20. A: Partial view of the SQF PCR results of a normal electropherogram. Numbers on the bottom indicate the exon. B: Partial view of the SQF PCR results of the patient's electropherogram. Numbers inside the panel show dosage equivalent of exons relative to the normal sample in A. Exons 4, 6b, 8, and 10 show a deletion, whereas exon 19 shows an apparent duplication. Exon 7 is absent, whereas exons 1, 13, and 15 show normal dosage. The Journal of Molecular Diagnostics 2009 11, 253-256DOI: (10.2353/jmoldx.2009.080117) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Confirmation of compound heterozygosity for CF 40-kb del 4-10/1220del20. A: Agarose gel electrophoresis showing detection of CF 40-kb del 4-10 in the patient (lane P, arrow) but not in the normal control (lane C) using primers described elsewhere.5 The upper fragments shown are for exon 7 amplicons; notice the slightly faster migration of the apparent homozygous exon 7 (one amplicon) from the patient compared with the control. Lane S, 50-bp size standard. B: DNA sequencing of exon 7 traces (forward, F, and reverse, R) from a normal patient (control, top) and patient (bottom). The 20-bp apparent homozygous deletion in the patient's electropherogram is marked by green dashes. The arrow shows the junction of the 20-bp deletion. The bar in the bottom panel points toward the TGA stop codon at the deletion junction. The Journal of Molecular Diagnostics 2009 11, 253-256DOI: (10.2353/jmoldx.2009.080117) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions