Figure 2
From: Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
Molecular genetic analysis of the PRKAR1A promoter region (A) Whole genome sequencing shows half of the mapping reads in affected members compared to controls (x axis: read number, y axis: chromosomal position on chr 17) (B) Electropherogram of fragment analysis of the MLPA reaction products analysed by Peak Scanner Software. Reference control sample is coloured in red and PRKAR1A deletion carrier is in blue. Half of the peak intensity is detected at the arrow-pointed probes in the deletion carrier sample relative to the control sample. Arrows point to PRKAR1A probes specific for Exon 1b and Exon 1a/b. These fragments are falling into the deleted DNA segment. (C) Duplex PCR from the gDNA template of the proband (signed with asterisk) and family members (cropped). Deletion-specific product is 624 bp long and obtained only from the gDNA of PRKAR1A-deletion carriers with primer pairs Del_For and Del_Rev, while the normal allele-specific product is 498 bp long and produced in each PCR, with primer pairs Ref_For and Ref_Rev if template gDNA has at least one normal allele. Original gels are presented in Supplementary Figure S1. (D) Schematic chart of PRKAR1A promoter deletions relative to PRKAR1A transcripts. The 10.6 kbp deletion detected in our proband is highlighted in red, the 3.88 kbp deletion in blue (Horvath et al.) and the 8.57 kbp deletion (Ito et al.) in black.
