Figure 3. Pedigrees and heteroduplex-SSCP analysis

Pedigrees of the different families (A, B, C, D, E, and F) are shown. Black filled symbols indicated patients affected with BPES in each family. The "+/+" or "+/-" sign indicated individuals analyzed with normal sequences or heterozygous mutation in FOXL2, respectively. The "M" under each lane indicated mutation, the "N" represented normal individuals, and "N+M" represented a mixture of PCR products resulted from normal and mutant clones. In addition, results of FOKI digestion for family A were present at the bottom of Figure 1A. The c.241T>C mutation in family A creates an additional FOKI site. By FOKI digestion of the 545 bp PCR product, normal allele yielded two fragments (340 bp and 205 bp), but the mutant allele yielded three fragments (275 bp, 205 bp, and 65 bp). Patients with the heterozygous c.241T>C mutation had four bands (only three bands were shown in the figure) as compared to normal individuals with two bands.