Figure 2.
Shared and unique somatic SNVs/indels in twins’ leukemias. (A) All somatic SNVs/indels across the genome. Two thousand, four hundred twenty-one and 2955 unique to Tw1 and Tw2, respectively, and 58 shared. (B) SNVs/indels in protein coding genes. Nine hundred fifteen and 1040 unique to Tw1 and 2, respectively: 23 shared. (C) dPCR detection and quantification of UBA2 deletion (NM_005499.2: c.463_470del; NP_005490.1: p.(Thr156Leufs*2) at birth, diagnosis, and in remission. Diagnostic sample of Tw2 not available for analysis. Clusters of dPCR chip wells positive for wildtype allele (red), mutant allele (blue), wildtype and mutant allele (green), and with no amplification (yellow). UBA2 deletion was detected at birth (both twins), diagnosis (Tw1; Tw2 lacked sample for analysis), and, unexpectedly, also in remission (both twins). Detection limit: 1 in 1000 copies. Images acquired from QuantStudio 3D Analysis Suite Cloud Software, version 3.1.6-PRC-build2 with default parameters.