Skip to main content
. 2019 Mar 28;104(4):651–664. doi: 10.1016/j.ajhg.2019.02.017

Figure 2.

Figure 2

LOH Analysis of p.Gly374Glu-DLST Tumors

A schematic representation of chromosome 14 showing the uniparental disomy (UPD) identified by SNP array analysis in three PPGLs (#3C, #4, and #5A) that carry the p.Gly374Glu-DLST variant (indicated by a red asterisk) compared to a control tumor. Yellow bars represent the alleles with the lowest copy number (n = 0), and blue bars represent the alleles with the highest copy number (n = 2). MEG3, a maternally expressed imprinted gene, was used to determine the origin of the observed UPD. The presence in the three tumors of only the methylated allele of MEG3 (indicated by a red arrowhead) indicates that the UPD has a paternal origin.