Figure 1 of
Poehner, Mol Vis 2000;
Figure 1. Inheritance of the 20 bp RPE65 deletion
A. Pedigree of a Sardinian family with the 20 bp RPE65 deletion. Filled symbols represent affected patients; unfilled symbols represent unaffected family members. B. Agarose gel (2%) of PCR-amplified products of RPE65 exon 4 stained with ethidium bromide; reverse image. Affected siblings are all homozygous for the lower molecular weight band while the one unaffected sibling and the father are heterozygous; DNA was not obtained from the mother. The three bands in the heterozygotes represent the normal allele, the deleted allele, and a heterodimer of the two alleles which often forms during the late stages of PCR.