Figure 1. Pedigree structure and
mutation analysis of the Indonesian arRP family. A: In
the family pedigree, affected individuals are indicated with
filled symbols whereas unaffected relatives are indicated with
open symbols. Genotypes are indicated below the pedigree
symbols. M represents the c.1012C>T: (p.R338*) substitution,
and + represents the wild-type allele. B: Shown are
sequence chromatograms of RP1 corresponding to the three
affected individuals (II:4, II:6, II:7), the proband’s father
I:1), and one unaffected sibling (II:2). The substituted
nucleotides are indicated with arrows.
