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Figure 5 | BMC Medical Genetics

Figure 5

From: Structural variation and missense mutation in SBDSassociated with Shwachman-Diamond syndrome

Figure 5

Approximate location of the inherited SV at the SBDS locus based on Southern blotting assays using Kpn I and Xba I restriction enzymes. a. Size and location of the expected segments obtained using KpnI and XbaI restriction enzymes based on the reference genome (blue arrows) and extra segments obtained exclusively in SV carriers (BAB3762 and BAB3764 - purple arrows). The nature of the SV is currently unknown although the Southern blotting results are consistent with a genomic insertion of at least 2.8 kb (represented by a crosshatch red box) somewhere between SBDS 5’flanking region and intron 3 (represented by a red box with an arrow on top). Red box: Southern blotting probe. Yellow rectangle highlights a common probe target region between the reference genome and the genome of the SV carriers. b. An alternative hypothesis of SV present within the pseudogene. Genomic coordinates as of GRCh37/ hg19 to SBDS and SBDSP1 loci are represented on top of each region. CEN: centromere; TEL: telomere.

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