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Fig. 3 | Molecular Autism

Fig. 3

From: Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder

Fig. 3

Expression analysis of PARK2. The expression level of PARK2 transcript was detected using four primer pairs specific to EX3-4, EX4-5, EX6-7, and EX9-11, respectively. Decreased expression level of specific PARK2 exons was observed in (a) case group of Family U1984 and (b) case group of Family U2650 (*P < 0.05, **P < 0.01). c Alternative splicing of PARK2 gene produces three known transcript variants (transcript variant 1: grey, transcript variant 2: blue, transcript variant 3: red) according to RefSeq Gene. Arrows on the top of the gene locus indicate the primer pairs used for expression detection. d The proposed genomic DNA rearrangement and PARK2 mutant transcript (purple) in the proband U1984 with duplication of EX3-4 on PARK2 based on the result of qRT-PCR. The frame was drawn in orange to represent the EX3-4 duplication. e The proposed PARK2 mutant transcript (green) in the proband U2650 with deletion of EX2-4 on PARK2 based on the result of qRT-PCR

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