Figure 3. Sequence and RFLP analysis of the c.697_699 mutation

A: Forward (left) and reverse (right) sequencing results of normal exon 3 of the BFSP2 gene. B: Heterozygous c.697_699delGAA mutation in exon 3. C: MboII digestion of the BFSP2-exon 3 PCR products (208 bp/wt and 205 bp/mutant) from individuals just above each lane. DNA from individuals 1-4, 6, 9, 10, 16, 17, and 36 were not loaded on the gel. The GAA deletion erases one of the three MboII sites in the amplicon. MboII cuts the wild type into 87 bp, 65 bp, 30 bp, and 26 bp fragments; it cuts the mutant into 114 bp, 65 bp, and 26 bp fragments; and it cuts the heterozygous wild type and mutant into 114 bp, 87 bp, 65 bp, 30 bp, and 26 bp fragments. The left lane (marked "M") is a 50 bp ladder marker.