Figure 6

Experimental validation of PARK2 mutation by PCR-sequencing. A: EC in PARK2 gene on chromosome 6 of HF1551. The enlarged figure shows the position of the PCR amplicon. B: Restriction digest of the PCR amplicon. The undigested amplicon is 848 bp. Digestion with SwaI restriction enzyme is expected to yield two fragments of 577 bp and 271 bp (based on the location of the EC in the optical map). An addition digestion was performed with NheI enzyme to ensure the correct amplicon was being analyzed. The expected sizes of the NheI fragments are 700 bp and 148 bp. C: Sequence of the PCR amplicon showing the G > T transversion that creates a new SwaI cut site.