Figure 1. Family structure, proband fundus appearance, DNA sequence chromatograms, and co-segregation analysis of the p.T849A mutation with the disease phenotype in a Chinese family with cone dystrophy. A: The pedigree and haplotype analysis of the family with cone dystrophy showed segregation with three microsatellite markers on chromosome 17 listed in rising order from the telomere end. Squares indicate males; circles indicate females; slashed symbols indicate deceased; solid symbols indicate affected; open symbols indicate unaffected; M indicates mutant; and + indicates wild-type. B: Fundus appearance of the proband shows the subtle mottling of the RPE in the macula. C: Heterozygote sequence (sense strand) shows an A/G transition in codon 849 that changed threonine to alanine. D: Allele-specific PCR analysis presents the amplified products of the mutation allele (184 bp) co-segregated with patients in this family. The fragments (325 bp), which are the parts of exon3 of the MYOC gene, were used as the internal control in the allele-specific PCR analysis. E: The sequence alignment portion of the dimerization domain spanning the p.T849 of the GUCD2Y of the human with other species.