Fig. 4
Neutral polyacrylamide gel electrophoresis (PAGE) of DNA samples from all study participants in Families 1–3. A 50-bp DNA Ladder was used as a marker (lane M). Red asterisks denote affected individuals. The numbers on the left and right of the figures represent the size of markers and DNA fragments, respectively. a: Neutral PAGE of DNA samples from participants in Family 1. The wild-type allele had a Taqα I restriction site, and was therefore digested into 29-bp (not shown) and 102-bp fragments; b: Neutral PAGE of DNA samples from participants in Family 2. The mutation c.4802delT resulted in a gain of the Alu I restriction site after the forward primer (NF1-family 2F; Additional file 1: Table S1) introduced a mismatch nucleotide in its 3′ end, and the mutant allele was subsequently digested into 24-bp (not shown) and 77-bp fragments; c: Neutral PAGE of DNA samples from participants in Family 3. The mutant allele was digested into 39-bp (not shown) and 112-bp fragments by Sac II since the deletion of thymidylate produced a new restriction site