Fig 2

Digital PCR to determine the allelic configuration of two sequence changes in GJB2. A, Example of a plate image of the digital PCR results. Only two patients, P1 and P5, were included in the example although digital PCR of all 8 patients were performed on a 384-well plate. Each patient covered 45 wells. Row A was for the NTC only. From column 1 to 12, rows B to E were used for P1; from column 13 to 24, rows B to E were used for P5. Wells with PCR amplification indicated strong fluorescent signal (white color image), whereas wells with no amplification had a dim background signal. B, Example of the sequencing results of well B12 and C12 for P1. Sequencing indicated that well B12 contained template that had the WT allele with p.Val27 (V27) and p.Glu114 (E114); well C12 contained template that had an allele with both p.Ile27 (I27) and p.Gly114 (G114). C, Example of the sequencing results of wells G16 and G17 for P9. Sequencing indicated that well G16 contained template that had only p.His100fs (c. 299_300delAT); well G17 contained template that had an allele with p.Ile37 (I37). Thus, these mutations are on opposite chromosomes.