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. 2008 Jun 16;14:1157–1170.

Figure 3.

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.