title: 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.affiliation: Institute of Human Genetics, University of Amsterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Mannens
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
authors.forename: J
authors.initials: J
authors.lastname: Bliek
authors.forename: J
authors.initials: J
authors.lastname: Hoovers
authors.forename: I
authors.initials: I
authors.lastname: Mandjes
authors.forename: S
authors.initials: S
authors.lastname: van Tol
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: C
authors.initials: C
authors.lastname: Heyting
authors.forename: A
authors.initials: A
authors.lastname: Westerveld
authors.forename: R M
authors.initials: RM
authors.lastname: Slater
mesh_terms: D015783:Aniridia / Q000235:genetics*; D002374:Catalase / Q000235:genetics; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004247:DNA / Q000302:isolation & purification; D015342:DNA Probes; D004262:DNA Restriction Enzymes; D004587:Electrophoresis, Agar Gel; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012984:Software
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA; D002374:Catalase; D004262:DNA Restriction Enzymes