Figure 3. DNA sequence chromatograms and co-segregation analysis of the N188T mutation with the disease phenotype

A: Heterozygote sequence (sense strand) showing an A->C transition (arrow) in codon 188 that changed asparagine (AAC) to threonine (ACC). B: Restriction fragment length analysis showing that a gain of the novel AleI site co-segregated with affected individuals heterozygous for the A->C transition (237, 128, and 109 bp) but not with unaffected individuals and spouses (237 bp only).