title: Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.
abstract: A human ornithine aminotransferase (OAT) locus has been mapped to the Xp11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT.
authors.affiliation: Vision Genetics Center, Jules Stein Eye Institute, Los Angeles, California 90024.
authors.forename: J T
authors.initials: JT
authors.lastname: Ngo
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
authors.forename: V
authors.initials: V
authors.lastname: Cortessis
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
authors.forename: J D
authors.initials: JD
authors.lastname: Kivlin
authors.forename: T
authors.initials: T
authors.lastname: Mohandas
authors.forename: G
authors.initials: G
authors.lastname: Inana
mesh_terms: D015139:Blotting, Southern; D008040:Genetic Linkage; D034381:Hearing Loss; D006801:Humans; D008607:Intellectual Disability; D008126:Lod Score; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D015183:Restriction Mapping; D012163:Retinal Detachment / Q000151:congenital*; D013577:Syndrome; D000637:Transaminases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase