Figure 1.
Pedigrees and sequence analysis in two families segregating autosomal recessive retinitis pigmentosa. (a, c) Pedigree of families RP127 (a) and RP1459 (c); blackened symbols are affected individuals, mutation genotype for TULP1 (a) or C2ORF71 (c) is indicated under each family member (‘+' means a wild-type allele). (b, d) Electropherograms; the normal sequence is written in black italic and the mutated nucleotides are in red. (b) TULP1 sequence for each of the two mutations in patient (indicated above) compared with wild type (normal) is shown. (d) C2ORF71 sequence for each of the two mutations in either father or mother (indicated above) is shown and compared to that of patient who carry both mutations in exon 1 and of wild-type individual (normal).