Sequence analysis of the NCF-1 exon 6/intron 6 junction in genomic DNA of patient 6.

Non-allele–specific amplification and sequencing of genomic DNA from patient 6 revealed a single nucleotide change from the normal sequence, a G574 → A transition (arrow). The mutation is likely to disrupt splicing because it alters the final nucleotide of exon 6, but it also predicts a change of Gly192 → Ser.