Figure 3. Mutation analysis of
β-crystallin genes. A: Pedigree and RFLP analysis of family
CCW1 is shown. The dot on the upper right corner of the symbol denotes
a sample was available for the study. The mutation, IVS3+1 G>A, in CRYBA1
creates a novel NlaIII restriction site. Wild type individuals display
a 488 bp and 32 bp band while the affected individual display a 488 bp,
346 bp, 142 bp, and 32 bp cleavage product. The latter 32 bp DNA
fragment expected to be generated from the PCR product due to the
presence of a common NlaIII site cannot be visualized in the agarose
gel. Lens images of individuals of family CCW-1, IV:12 aged 8 years
with lamellar cataract (B) and individual III:20 aged 33 years (C),
show floriform cataract respectively. D: Pedigree and RFLP
analysis of family CCW58 with IVS3+1 G>A mutation in CRYBA1
are shown. E: Mutation analysis of CRYBB2 in pedigree
CCW19 shows heterozygous C>T transition in the chromatogram that
results in Q155X. M denotes 100 bp DNA ladder, C denotes unrelated
control, and UD denotes undigested PCR product.