Figure 3.

Detection of complex sequence changes with hMC-derived mass spectra. A: Sequence variations (left) and corresponding mass spectra (right) for a heterozygous three-nucleotide insertion (1215InsCTT, upper panel) and an adjacent heterozygous SNP (T2512C, lower panel) in exon 8 of the PINK1 gene. Fragments indicative of the respective sequence variation are underlined. The peaks correspond to the mutant (mut) and wild-type (wt) fragments, respectively. B: Dideoxy sequencing reaction of the same DNA. Forward (upper) and reverse (lower) reactions are shown. The positions of both sequence variations are indicated. Interpretation of the sequencing reaction is hardly possible due to the shift of the trace data after the insertion.