Figure 2  Functional Effects of RTEL1 Mutations in Individuals with HHS
(A) Telomere lengths measured by monochrome multiplex quantitative PCR are expressed as a telomere-to-single-copy-gene (T/S) ratio (individuals with biallelic RTEL1 mutations are compared to controls). Red squares represent cases, and gray circles represent controls.
(B) Mutations in RTEL1 affect T-circle accumulation. Linear terminal restriction fragments (TRFs) and Phi-29-dependant T-circles (TCs) were detected in genomic DNA by Southern blot analysis.
(C) Graphical representation of the increase in the production of T-circles in cases (P1 and P2) and controls (C1–C3). A box plot of the median value from three different experiments shows the interquartile range (p = 0.0148, unpaired t test).