Figure 3. Results of nucleotide sequencing analysis. A: Family has a ORF15+577_578delAG mutation. The upper sequences (A) are the normal alleles. The middle sequences (B) are homozygous mutation identified in affected male and the lower sequences (C) are heterozygous mutation identified in obligate female. The black rectangles indicate the deleted two nucleotides. The filled squares indicate homozygous condition of the base. The partially filled squares indicate heterogeneous condition of the base.