Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family |
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| Authors: | M Mannens E M Bleeker-Wagemakers J Bliek J Hoovers I Mandjes S van Tol R R Frants C Heyting A Westerveld R M Slater |
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| Affiliation: | Institute of Human Genetics, University of Amsterdam, The Netherlands. |
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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) (zeta = 7.27 at theta = 0.00) and D11S151 (zeta = 3.86 at theta = 0.10) flanking the AN2 locus on 11p13. 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 11p13. We have excluded linkage (zeta less than -2 at theta less than 0.18) between the aniridia and the chromosome 2p25 marker D2S1 (linked to ACP1). |
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