Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Figure 2

(a) Digestion pattern of LIMS1F2-RANBP2R4 amplicon with BstXI. The size of each fragment is showed in brackets, the black box represents the 15 nt match between both genes, and primers are indicated as black arrows (above). The sequence of the breakpoint is showed below with the 15 nt squared in white letters and in a black box in the reference sequence and in a black empty box in the sequencing sequence. (b) (Left) BLAST from LIMS1 and RANBP2 sequences at that region. The matched nucleotides are white in a black box. (Right) representation of the Alu elements contained in the breakpoint regions. The black box represents the 15 nt sequence showed left. (c) qPCR results of exons 5 and 6 of ARID1B gene and of exons 1, 2, 3, and 4 of ZDHHC14 gene.

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