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. Author manuscript; available in PMC: 2016 Apr 1.
Published in final edited form as: Genet Med. 2015 Jan 8;17(10):831–835. doi: 10.1038/gim.2014.189

Figure 2. Translocation Characterization and PCR Confirmation of t(5;18) (q35.1;q21.2).

Figure 2

(A) The der5 allele displays exons 9–36 through the terminus of SLIT3, joined in intron 8 of SLIT3 and intron 1 of DCC, with DCC exons 2 through 29 in the opposite direction. The der18 allele shows the 1st exon of DCC in the forward direction, ending in intron 8 of SLIT3, which is transcribed in the opposite direction. (B) Breakpoint Characterization: There is a 4bp region of homology between chr5 and chr18 at the breakpoint (CACA, orange), with a 2bp deletion on chr5 (purple underline). On chr18, there is no loss of genomic material. Arrows and coordinates detail the breakpoint bases from the GRCh37 reference sequence. (C) PCR Validation: Primers (5Fb and 5Rb; 18Fb and 18Rb) amplified the wildtype chromosomes 5 and 18. The proband's mother (FCP664) and a Thousand Genomes sample (HG117) were also tested. Pairing primers 5Fb with 18Rb and 5Rb with 18Fb amplifies the expected translocation product. Nested PCR was used to confirm the der18 product and eliminate non-specific bands.