Fig. 6.
Sequence analysis of p67-phox cDNA in patients SG and CG. The region between exons 10 and 14 was amplified by PCR using primers p67-835LcDNA and p67-1102RcDNA. The upper panel of the figure shows the cDNA sequences of a normal control and patients SG and CG with the 3′ end at the top. The dashed line indicates the 3′ end of exon 10 and the beginning of 2 different sequences in each patient. The lower panel of the figure shows a schematic representation of the splice defect produced by the nt substitution in the branch point sequence of intron 10. The A → G transition at position −21 of intron 10, important for RNA lariat formation, produces a partial defect in splicing of exon 11 that can allow alternative splicing between exons 10 and 12.