Identification of Recombinant Alleles Using Quantitative Real-Time PCR

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Identification of Recombinant Alleles Using Quantitative Real-Time PCR Arash Velayati, Melanie A. Knight, Barbara K. Stubblefield, Ellen Sidransky, Nahid Tayebi The Journal of Molecular Diagnostics Volume 13, Issue 4, Pages 401-405 (July 2011) DOI: 10.1016/j.jmoldx.2011.02.005 Copyright © 2011 Terms and Conditions

Figure 1 A: The location of glucocerebrosidase gene (GBA) and its pseudogene, metaxin and metaxin pseudogene on chromosome 1. B: Exonic and intronic structure of GBA, pseudogene-derived mismatches, and amino acid changes associated with the allele are indicated. Typical nonreciprocal (gene conversion) and reciprocal (gene fusion or duplication) recombinants are shown. The sequences absent in pseudogene are also shown. (Reproduced from Hruska et al, 2008.9) The Journal of Molecular Diagnostics 2011 13, 401-405DOI: (10.1016/j.jmoldx.2011.02.005) Copyright © 2011 Terms and Conditions

Figure 2 A: Results of quantitative real-time PCR of GBA and GBAP performed in samples from the patients listed in Table 2. The probes are in order, beginning from upstream of GBA to the 3′ end of GBAP. WT: Control sample with no known recombination, used to normalize the data; P2and P3: patients with fusion alleles; P5: patient with a large deletion; P7: patient with recΔ55 [c.1263-1317del (55-bp deletion)]; P9 and P10: patients with GBA duplications. The y axis reflects relative quantitation. The red lines indicate the range in copy number found among controls. B: Southern blot using HincII-digested DNA samples, corresponding to the cases described in Table 2 (except P4, where insufficient DNA was available for real-time qPCR). Normal individuals have five bands as shown, whereas patients with recombinant alleles demonstrate extra bands. The Journal of Molecular Diagnostics 2011 13, 401-405DOI: (10.1016/j.jmoldx.2011.02.005) Copyright © 2011 Terms and Conditions