Figure 2

Microsatellite and quantitative real-time polymerase chain reaction (PCR) validation of OXTR deletion. (a) Microsatellite markers within and adjacent to the copy variable region in the OXTR deletion family were assayed to confirm homozygosity and parental transfer of alleles. (b) Normalized real-time PCR results confirm the loss of a single copy of OXTR in both the mother and the proband (marked by a black triangle). Copy number was normalized to RNAseP and controls were used to verify deletion. The 1 × control is a tumor sample with a known chromosome 3 deletion. The 2 × control is an unaffected sample from the copy number variant (CNV) study in this paper that is not copy variable at OXTR.