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).