Figure 3. DNA sequence chromatograms and restriction fragment length analysis on the two mutations detected in this study. A: Heterozygote sequence (sense strand) shows a G/C transversion in codon 169 that changed alanine (GCC) to the proline (CCC) detected in family 83. B: c.505G>C abolished an AciI restriction site that cosegregated with the affected individuals (37 bp, 62 bp, 36 bp, and 155 bp), but not with unaffected individuals and normal controls (37 bp, 62 bp, 36 bp, 65 bp, and 90 bp). C: Sequence presentation of the heterozygous a C/A transversion in codon 347 that changed proline (CCG) to glutamine (CAG). D: c.1040C>A created a StuI restriction site that cosegregated with the affected individuals (149 bp, 124 bp, 104 bp, and 45 bp), but not with unaffected individuals (149 bp and 124 bp).