Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.
Maximum likelihood analysis for linkage between autosomal dominant aniridia and 12 biochemical and serological markers in a single large family showed a probable linkage between autosomal dominant aniridia and the enzyme acid phosphatase-1. The presence of an autosomal dominant aniridia gene linked to acid phosphatase-1 on chromosome arm 2p and the existence of an aniridia syndrome resulting from deletion of band 13 of the short arm of chromosome 11 establishes a chromosome basis for genetic heterogeneity of aniridia phenotypes.
D000135:Acid Phosphatase / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D003201:Computers; D000013:Congenital Abnormalities / Q000235:genetics*; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D010375:Pedigree; D011110:Polymorphism, Genetic
D000135:Acid Phosphatase