Skip to main content
Figure 2 | BMC Medical Genetics

Figure 2

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

Figure 2

Segregation of private mutations spanning SBDS in family HOU1479. Missense mutation c.98A > C was maternally inherited by all four children whereas the SV is present only in the father and the patient with SDS. a. Top: Pedigree of family HOU1479 with information about carrier status of both mutations in each family member. Bottom: SBDS allele status with corresponding chromatograms of exon 1 Sanger sequenced using genomic DNA (gDNA) or cDNA prepared from RNA extracted from LCLs. b. Western blot analysis of SBDS in LCL whole cell extracts prepared from an unrelated, unaffected control (CTL), the proband and her family members as indicated. Beta-actin blotting was performed for a protein loading control. c. Genomic organization of SBDS and SBDSP1 with identification of the region of the probe used for Southern blot in d. d. Southern blotting of SBDS and SBDSP1 in samples from family HOU1479 and three unrelated, unaffected controls (CTL1-3) using KpnI restriction enzyme.

Back to article page