Figure 3. DNA sequence chromatograms and
co-segregation analysis of the p.N450Y mutation with disease phenotype.
A: Heterozygote sequence (sense strand) shows an A/T transition
in codon 450 that changed asparagine (AAC) to tyrosine (TAC). B:
Restriction
fragment
length
analysis shows the p.N450Y mutation
abolishing a HindII site co-segregated with JOAG patients, ocular
hypertensions, and the carriers (342 and 279 bp), but not with
unaffected individuals (279 bp).