Identification of the deletion breakpoint. (A) The breakpoint of the deletion (shaded box) was identified in genomic DNA using a forward primer (indicated by the forward arrow) in CFH exon 22 and a reverse primer (indicated by the reverse arrow) in CFHR3 exon 1. (B) Sequence of the breakpoint. Two nucleotides (AG) interposing between CFH intron 22 sequence and CFHR3 5′-UTR sequence (shaded box). (C) CFH and CFHR3 sequence flanking the breakpoint. Microhomologous sequence adjacent to the breakpoint is underlined.