Analysis of a single nucleotide difference between the genesDGCR6 and DGCR6L. (A) A single nucleotide difference between the two genes destroys a PvuII restriction site in DGCR6L (C to T transition). (B) Genomic DNA from a total of 115 VCFS/DGS deleted patients containing either the 3 Mb deletion or the 1.5 Mb deletion was used to determine the status of the polymorphism. A 253 bp PCR product was synthesized using the the DGCR6–6F/DGCR6–4R primers and then restriction digested withPvuII. Shown are the representative results from 23 patients, lanes 1–23. Lanes 24 [(P) proximal] and25 [(D) distal] represent the amplification of the genomic clones followed by PvuII digestion of sc11.1a (digested) and sc11.1b (undigested), respectively.
