title: Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.
abstract: Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosome OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.
mesh_terms: D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004247:DNA; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D009693:Nucleic Acid Hybridization; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D000637:Transaminases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004247:DNA; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase