Figure 2.

Results of MLPA analysis showing a novel CFHR1/CFH hybrid gene. MLPA analysis over the CFH-CFHR region shows three copies in a large region beginning with CFH exon 23 and ending after CFHR1 exon 5 in patients II:1 (proband), III:1 (affected daughter), and III:2 (unaffected son) but not II:2 (unaffected wife). The analysis has been performed with the SALSA MLPA P236-A3 ARMD Kit (MCR Holland) implemented with homemade probes analyzed in a separate assay and covering the last exons and introns of the CFH gene (exon 19, intron 20, intron 21, intron 22, and exon 23). MLPA probes are represented by triangles. Red triangles indicate duplicated probes. The positions of primers for breakpoint mapping are shown by black arrows.