Genomic DNA sequence analysis of exon 2 (upper panel) and the exon 4/intron 4 region (lower panel) of the p67-phox gene from patient NS and her parents. In the upper panel, the box indicates the 9 nts deleted from the normal exon 2 sequence seen in both NS and her mother. The arrow adjacent to the box indicates the site where the 9-nt deletion starts in exon 2. The 5′ end of the DNA is at the top. In the lower panel, the arrows indicate the g → a transition in the first nt in intron 4 seen in both NS and her father. The upper case letters represent exon 4 sequence, while lower case letters indicate the intronic sequence. The 3′ end of the DNA is at the top of this panel.