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. 2013 Sep 25;85(4):933–937. doi: 10.1038/ki.2013.348

Figure 3.

Figure 3

Characterization of the abnormal CFHR5 protein in the pedigree. (a) Western blot of serum with a polyclonal anti-human CFHR5 antibody. Both the normal CFHR5 protein and an abnormal higher-molecular-weight protein were detected in the index case and the serum of affected family members. (b) Schematic representation and chromatogram showing genomic breakpoint. The ACT sequence is common to both introns 1 and 3. The abnormal genomic amplicon was generated using the forward primer in intron 3 (green arrow, 5′-TATTGGCTGTGGGTTTGTCA-3′) and the reverse primer in intron 1 (red arrow, 5′-TGACTGATCACTTATATCACAGTTGG-3′). The breakpoint is 4583 bp into CFHR5 intron 3 (A of ACT=4584), where the sequence switches to CFHR5 intron 1 at 2797 (A of ACT=2798). (c) Screening for the genomic breakpoint by polymerase chain reaction. The 337-bp amplicon is amplified from the wild-type CFHR5 gene. If the intronic breakpoint is present, a 239-bp amplicon is generated. CFHR, complement factor H related.