Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Figure 3

(a) Schematic representation of both chimeric genes in patients 1 and 2 and the primers used for its cDNA sequencing. (b) Sequence from RT-PCR cDNA, which confirm the presence of the fusion transcripts. A light-gray box underlines the 5′ end of the chimeric gene formed by LIMS1 in patient 1 and ARID1B in patient 2, and a dark-grey dashed box indicates the 3′ end genes (RANBP2 in patient 1 and ZDHHC14 in patient 2). (c) BLAST from these sequences confirming that there are no other annotated regions in genome with such sequences (BLAST conditions: Database Human genomic plus transcript; optimize for highly similar sequences with a word size of 24).

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