Figure 1 of Devi, Mol Vis 2008; 14:1157-1170.


Figure 1. Pedigree, electropherogram, and restriction fragment length polymorphism of ADCC families with a mutation in the α-crystallin gene. In the pedigree, the square symbol represents males while the circle symbol represents females. A circle with a slash denotes a deceased individual, and a blackened symbol denotes an affected individual. The dot on the upper right corner of the symbol means a sample was available from that individual, and the arrow denotes the proband. A, B, C show mutation analyses of CRYAA. A: Family CCW46 shows a heterozygous c.104 C>T resulting in a novel ApaLI restriction site (mutant allele−191 and 63 bp, wild type−254 bp) B: Family CCW36 shows a c.130 C>T change that results in the loss of the MspI restriction site (mutant allele-254 bp, wild type-116, 90, and 48 bp) C: Family CCW55 shows the gain of a novel HpyCH4V site cosegregating with the affected individual heterozygous for c.230 C>T transition (mutant allele-254, 191, and 63 bp and wild type-254 bp). D: Family CCW22 has a mutation in CRYAB, c.557G>A. This mutation results in the loss of a HpyF10VI site (mutant allele-258 and 118 bp, wild type-258, 77, and 41 bp). M denotes 100 bp DNA ladder, and C denotes unrelated control.