Fig. 2.

Schematic representation of NEMO and ΔNEMO pseudogene location in Xq28. (A) NEMO gene (▭), ΔNEMO pseudogene (▒), (B) rearranged NEMO gene (▭), ΔNEMO pseudogene (▒). In multiplex PCR, forward primers are Int3s (5'-CCA CTC AGG GCT TAG AGC GC-3') and Rep3s (5'-CTC TTT TGA CAA GAA CAC CGG A-3'). Int3s, located within intron 3, matches with the wild-type and rearranged NEMO and pseudogene as well. Rep3s matches with two direct repeats (▸) on both the wild-type NEMO and pseudogene, while it matches with the unique remaining direct repeat on the rearranged NEMO and pseudogene. L₂Rev (5'-TCG GAG ACA CAG GAA CCA GCA-3') is the reverse primer. In long-range PCR, In2 (5'-GAG GAC CAA TAC CGA GCA TC-3') and JF3R (5'-CTC GGA GAC ACA GGA ACC AGC A-3') primers amplify a 2.6-kb gene-specific band. JF3R and Rev-2 (5'-GCC ATC TGT TTT TGC GTG TG-3') primers reveal a 2.5-kb pseudogene-specific band.