Figure 2
From: DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects
Identification of genes within microdeletion and duplication areas at the proximal part of the DiGeorge critical region, as confirmed by quantitative PCR analysis. (a) The affected regions in cases 1 and 2 contain DGCR6, PRODH and DGCR9 genes, as confirmed by quantitative PCR. PGK2 was used as an internal reference, and the average value of six control DNA samples was set as one for each primer set. Case 2 is a male showing a half dose of the HPRT1 gene located on the X chromosome. (b) Results of quantitative PCR in representative female control samples.
