Figure 3 of
Yao, Mol Vis 2005;
11:758-763.
Figure 3. DNA sequence chromatograms and cosegregation analysis of the Q155X mutation with the disease phenotype
A: Forward sequence analysis of the normal and affected sequence of exon 6 of the CRYBB2 gene in this ADCC Chinese family. The C->T transition at position 475 converts the GLN codon 155 of CAG to an in-frame stop codon, TAG (Q155X). B: Restriction fragment length analysis showing that a gain of the novel SpeI site cosegregated with affected individuals heterozygous with the Q155X mutation (308, 202, and 153 bp) but not with unaffected individuals (308 and 202 bp).