Identification of the “pseudogene marker” TG in intron 1.

Genomic DNA from a normal individual (n) and an A47° CGD patient (p) was amplified using the primers 1LA, 1LB, 2RC, and 2RD. The PCR products contained the 3′ end of intron 1 and the entire exon 2. In the patient sample, only the “pseudogene marker” TG located in intron 1 122-bp upstream from the 5′ end of exon 2 is present. The normal individual typically showed both sequences, the wild type CG and the pseudogene TG (arrow). Sequence analysis of the antisense DNA strand or restriction analysis with Aci1 (c/cgc) confirmed these data (not shown).