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Figure 4 | BMC Medical Genetics

Figure 4

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

Figure 4

Additional studies of the genomic segment that includes SBDS supports the presence of an insertion of unknown origin within the paternal allele. a. Agarose gel analysis of a 13.1 kb long-range PCR product spanning SBDS and flanking region, the region targeted by the Southern blotting studies (Figures 2 and 3). DNA from patient (BAB3762), parents (BAB3763- mother, BAB3764-father) and a normal controls (CTL1 and CTL2) were amplified using primers DelFb + KpnR, and then digested with either KpnI or SacI. KpnI did not digest the 13.1 kb PCR product, consistent with lack of amplification of the paternal allele. Consistently, SacI digestion of the 13.1 kb PCR product showed an identical pattern in samples and controls. b. Sanger sequencing of intron 2 amplified along with exon 2 using short range PCR revealed inconsistent segregation of a paternal genotype for two polymorphic SNPs in the patient (BAB3762). *Non-digested PCR product.

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