Fig. 2
From: Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease
Chromosomal breakpoint map of SNCA triplications. a Array CGH data for the Iowa kindred case (top data track) and a patient from the Lister kindred (bottom data track). The Iowa triplicated region is 1.7 Mb and the Lister triplicated region is 0.8 Mb. Duplication and triplication breakpoints determined by the algorithm DNAcopy are indicated by red arrows. b Genome browser (UCSC, hg19) view of RefSeq genes located within and flanking the SNCA triplications. Copy numbers of 2, 3, and 4 are denoted by light, medium, and dark orange line segments for the SNCA triplication patients shown in panel (a). Vertical gray-shaded bars demarcate the breakpoints in the gene track. c Array CGH fine-mapping of Iowa kindred breakpoints: top data track is a zoomed view of the 1 M probe array data (panel a) on the Iowa male case report, middle data track is the Iowa male using a higher resolution custom CGH array, bottom data track is an Iowa female on the custom CGH array. See supplemental table 2 for genome coordinates. A Log2 ratio value of 0 corresponds to no change in copy number relative to a reference genome (see Methods), whereas duplicated and triplicated chromosomal regions have Log2 ratio values of ~0.6 and ~1.0, respectively
