Figure 2From: First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer Results of the molecular analysis on the CHEK2 duplication. (A) Electropherograms showing the MLPA probes for CHEK2 exons in a reference sample (upper panel) and in proband III-4 (lower panel): duplicated exons are indicated by red arrows (Coffalyser software uses the NM_001005735.1 transcript of CHEK2). (B) Schematic representation of CHEK2 gene showing the wild type allele and the duplicated allele (transcript NM_007194.3 with non-coding exon 1 in grey): arrows indicate primers 13-forward and 6-reverse used for PCR. (C) Agarose gel showing the breakpoint of the duplication amplified by PCR: the reaction generated a 6-kb product in patients with the duplication (II-3, II-5, III-4 and III-5) but not in the wild type individual (II-7) or negative controls (C1 and C2). M, molecular weight size marker 1Â kb (Promega).Back to article page