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

Cytogenet Cell Genet. 1989;52(1-2):32-6. doi: 10.1159/000132834.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

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