cDNA Evidence of a Hybrid Gene

<div><p>(A) Inverted <i>CFH</i> exons 20–23 cDNA sequence showing the site of the first-round forward primers (blue), the second round forward primers (green), and the reverse primers for both rounds (red). The nucleotides at which the <i>CFH</i> and <i>CFHL1</i> sequences differ are shown in bold and highlighted (excluding exon 20).</p> <p>(B) Inverted cDNA sequence of <i>CFH</i> exons 20–23 from III:6 (affected family member) showing evidence for a hybrid <i>CFH/CFHL1</i> gene. Positions at which the <i>CFH</i> and <i>CFHL1</i> sequences differ are indicated by arrows. At the three differences in exons 22 and 23 (numbered 1–3) there is a heterozygous base change, one allele being wild-type <i>CFH</i> and the other the equivalent base from <i>CFHL1</i>.</p> <p>(C) Inverted cDNA sequence showing hybrid <i>CFH/CFHL1</i> sequence (c.3590T>C, V1197A, and c.3572C>T, S1191L) in III:6 (affected) and III:3 (unaffected carrier) compared to normal <i>CFH</i> sequence in III:1 (unaffected), III:7 (unaffected), and a normal unrelated control.</p>