Figure 1 of Ben Rebeh, Mol Vis 2008; 14:1719-1726.


Figure 1. Pedigree, haplotype and statistical data for a Tunisian family segregating Usher type 2 syndrome. A-C: In pedigree, the square symbol indicates male, the circle symbol denotes female and black symbols represent affected individuals. Haplotypes for polymorphic markers in three candidate regions on Chromosome 2, 4, and 15 are shown. The disease-linked haplotype is indicated by black bar for markers listed while other haplotypes in gray and white. The critical linkage interval of each candidate region was indicated by box on haplotypes. Analysis of these markers allowed us to refine the boundary of the critical linkage intervals to 14.7 Mb, 25.5 Mb, and 55 Mb respectively. Among interesting candidate genes on chromosome 2 and 15 region two CERKL and MYO1E were selected for mutation screening. D-F: Multipoint lod scores for markers on three candidate regions on Chromosome 2, 4, and 15. Lod scores for the different markers studied were computed using Genehunter software. Maximum lod score of 1.765 was identified for the candidate regions on chromosome 4 between D4S2989 and D4S402 and chromosome 15 between D15S978 and D15S1036. A maximum lod score of 1.51 was found on chromosome 2 between rs155100 and rs1157595. The following abbreviation was used: Mega base (Mb).