Figure 4.

Detection of five base pair duplication mutation in exon 5 of PAX6 in family ANF8. A. Three generation pedigree shows the large family with affected and unaffected members. Arrow denotes proband. B. SSCP gel shows the unusual banding pattern (arrow) in all the affected members (8–1, 8–2, 8–3) but not in unaffected members or unrelated controls (UN) C. Forward and (D) reverse sequencing of genomic PCRs showing the superimposed signal distal to the duplication (arrow). A sequencing artifact is visible to the left of this trace, but the final edited data sequence is presented from several replicates of forward and reverse sequence. E. Forward sequencing result of normal exon 5 of PAX6 from the unaffected family member.