Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept
J. Clin. Invest. Pamela Poblete-Gutiérrez, et al. 114:1467 doi:10.1172/JCI21791 [Go to this article.]

Figure 4
Genetic consequences in nonsegmental and segmental skin areas. (A) Analysis of the relative amount of wild-type (blue curve) and mutant (red curve) ATP2C1 gene copies in a nonsegmental skin area by allele-specific quantitation using a real-time PCR TaqMan assay. The measured ratio of 3.8 ± 0.2 indicates that the splice site mutation most likely leads to nonsense-mediated mRNA decay. Results shown as a background-adjusted quantification of the amplified PCR product (ΔRn). (B, C) PCR fragment length scans analyzed with GeneScan software, comparing segmentally involved and clinically unaffected (nonsegmental) skin regions. (B) Marker D3S3634, nonsegmental skin area (top) and segmental skin area (bottom). (C) Marker D3S1302 nonsegmental skin area (top) and segmental skin area (bottom). This haplotype analysis demonstrated loss of the paternal allele for marker D3S1302 (arrow).