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. 2011 Jul;13(4):401–405. doi: 10.1016/j.jmoldx.2011.02.005

Figure 2.

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.