PCR amplification of intron 2.

Genomic DNA from a healthy individual (n1) and 3 A47° CGD patients (p1, p2, and p3) was amplified using primers 2LB and 2RC. A 330-bp amplification product containing the single bp sequence 176-bp downstream from the 5′ end of intron 2 (B) as well as a 350-bp fragment containing the 20-bp duplicated sequence from the pseudogene (C) were detected in normal individuals. Only the 350-bp fragment indicative for the pseudogene sequence was amplified from patients p1 and p2, whereas patient p3 showed both the 330- and 350-bp PCR product indicating the presence of wild-type and pseudogene alleles.