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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: Mol Carcinog. 2013 Dec 2;54(7):513–522. doi: 10.1002/mc.22116

Figure 2. BRCA2:c.67+3A>G splicing products detected by RT-PCR.

Figure 2

M – 100bp DNA marker (New England Biolabs); Lane 1 variant carrier; Lanes 2–5, normal unaffected female controls; lane 6, no-template control. Controls revealed only expected product sizes of 654bp for full length transcript, and 406bp for common exon 3 deletion isoform previously reported in healthy controls. The variant carrier in Lane 1 shows an aberrant product of 548bp, that was confirmed by sequencing to be an exon 2 deletion. The loss of exon 2 includes the position of the ATG start site, complicating prediction of the molecular consequences of this aberration.