Figure 5. Gene conversion of the wild to mutant allele was identified in a buttock lesion from F-31 carrying a MVK mutation of c.395delT.
(A) The mutant/wild allelic ratios in genomic DNA (gDNA) and complementary DNA (cDNA) of lesional tissue (LT) and neighboring normal-appearing skin (NNS). The quantity of the mutant allele was about threefold and 10-fold more than the quantity of the wild allele in gDNA and cDNA, respectively. (B) The chromatograms of single nucleotide extension targeting the c.395delT mutation using the SNaPshot kit for five DNA samples (blood gDNA, NNS gDNA, LT gDNA, NNS cDNA and LT cDNA). The mutant peak was overpresented in both LT gDNA and LT cDNA. (C) No copy number change in genomic DNA of NNS and LT. PA and PB are probes in the promoter region, E01 to E11 designates exon 1 to exon 11, and A or B indicate two different probes in the same exon. (D) The bisulfite sequencing of NNS gDNA and LT gDNA. No methylation was observed for the targeted CpG sites in the promoter region of MVK.