Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family

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Abstract
In a large pedigree with autosomal dominant aniridia, we found close linkage between the aniridia locus AN2 and the markers catalase (CAT) (z = 7.27 at Θ = 0.00) and D11S151 (z = 3.86 at Θ = 0.10) flanking the AN2 locus on 11p 13. Positive lod scores were also obtained for the 11p13→11p14 markers D11S16 and FSHB with the linkage group CAT/AN2/D11S151. We conclude that the autosomal dominant aniridia in this family is due to a mutation at the AN2 locus on 11p 13. We have excluded linkage (z < –2 at Θ < 0.18) between the aniridia and the chromosome 2p25 marker D2S1 (linked to ACPI).