Figure 4

Array CGH and Duplex qPCR. Validation of three selected DNA copy number alterations detected using array CGH in HBOC patients. A: Chromosome 11 array CGH profile (lower panel) of a cancer patient (SM-46); the vertical blue bar indicates the affected genomic region, which is enlarged in the upper panel showing a deletion in ATM exon 4 (upper panel). B: Duplex qPCR for the ATM exon 4 and a reference gene; the ratio between the patient and control peaks of the melting curve was 0.63, which confirmed a one-copy deletion. C: Chromosome 10 array CGH profile (lower panel) of a cancer patient (SM-62) showing a deletion in PTEN exon 2 (upper panel); the blue vertical bar in the chromosome indicates the gene region, which is enlarged in the upper panel. D: Duplex qPCR for the PTEN exon 2 and reference gene; the ratio between the patient and control peaks of the melting curve was 0.64, confirming the one-copy deletion. Coordinates of the enlarged gene region are given according to the UCSC Feb. 2009 (GRCh37-Hg19) assembly.