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. , , show mutation analyses of . : 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) : 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) : 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). : Family CCW22 has a mutation in , 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.Copyright information:Taken from "Crystallin gene mutations in Indian families with inherited pediatric cataract"Molecular Vision 2008;14():1157-1170.Published online 16 Jun 2008PMCID:PMC2435160.