Sequence analysis of exon 1 and 2 in patient 5.

Panel A: Sequence analysis of exon 1 of the CYBA gene of patient 5 and his family members. The patient, his father, and sister are all heterozygous for A at nucleotide 26, producing a nonsense codon at amino acid 9. The normal control shows only G at position 26. Panel B: Sequence analysis of exon 2 of the CYBA gene of patient 5 and his family members. The patient is homozygous for T at nucleotide 74, causing the replacement of glycine 25 with valine. The patient's mother is heterozygous as seen by the presence of both G and T at position 74. The patient's father and sister do not carry this allele as seen by the appearance of only the G at this position.