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

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).

• 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
• Journal: Cytogenetics and cell genetics (Cytogenet Cell Genet) Vol. 52 Issue 1-2 Pg. 32-6 ( 1989) ISSN: 0301-0171 [Print] Switzerland
• PMID: 2575483 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Probes
• Genetic Markers
• DNA
• Catalase
• DNA Restriction Enzymes

Topics

• Aniridia (genetics)
• Catalase (genetics)
• Chromosome Banding
• Chromosome Mapping
• Chromosomes, Human, Pair 11
• DNA (isolation & purification)
• DNA Probes
• DNA Restriction Enzymes
• Electrophoresis, Agar Gel
• Female
• Genes, Dominant
• Genetic Linkage
• Genetic Markers
• Humans
• Male
• Nucleic Acid Hybridization
• Pedigree
• Polymorphism, Restriction Fragment Length
• Software