Figure 1.

PKD1 and PKD2 mutation analysis was successfully performed using DNA obtained from renal cyst epithelia. Schematic representation of 83 cysts (nine patients) that were subjected to ADPKD gene mutation analysis, broken into subsets by sequencing method is shown. Of the 83 specimens, complete genotyping data by long-range PCR (LR-PCR) Sanger/next generation sequencing and whole exome sequencing (WES) was available for 63 and 65 cysts, respectively. A total of 46 specimens were successfully sequenced by both methods. Mutation detection rates for each sequencing group are denoted in the corresponding boxes. DQNS, DNA quantity not sufficient.