Analysis of genomic DNA from both the patients and a healthy control.

PCR products from each exon with intron boundaries and from the promoter region of CYBB were generated from genomic DNA obtained from circulating leukocytes and were analyzed by dye primer cycle sequencing. The figure shows the areas in which mutations were found in the patients. Patients are indicated by initials, nucleotide substitutions, and amino acid substitutions. Above each patient sequence, the normal sequence from the control is shown. Arrows indicate mutant sequence.