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.