Figure 2. DNA sequence chromatograms and cosegregation analysis of the R954C mutation with disease phenotype. A: Heterozygote sequence (sense strand) shows a C→T transition in codon 954 that changed arginine (CGC) to cysteine (TGC). B: Single strand conformation polymorphism (SSCP) analysis shows that the mutant pattern (three bands) cosegregated with affected individuals and carriers harboring heterozygous for the C→T transition but not with unaffected individuals and spouses (two bands).