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Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus. 1993

J B Bateman, and T L Kojis, and R M Cantor, and C Heinzmann, and J T Ngo, and M A Spence, and G Inana, and J D Kivlin, and D Curtis, and R S Sparkes
Vision Genetics Center, Jules Stein Eye Institute, UCLA School of Medicine.

Norrie disease is a rare disease of newborn males caused by prenatal or perinatal retinal detachment, which may be associated with mental retardation, psychosis, and/or hearing loss. DXS7 (L1.28) and MAO A and B loci have been linked to the ND locus on the short arm of the X chromosome. Sequences homologous to OAT also have been mapped to the short arm of the X chromosome. We performed linkage analyses between the ND locus and one of the OAT-like clusters of sequences on the X chromosome (OATL1), using a ScaI RFLP in a ND family, and increased the previously calculated lod score (z) to over 3 (3.38; theta = 0.05). Similarly, we calculated a lod score of 4.06 (theta = 0.01) between the OATL1 and DXS7 loci. Alone, the OATL1 ScaI RFLP system is expected to be informative in 48% of females. If this system were used in combination with the DXS7 TaqI polymorphism, 71% of females would be informative for at least one of the markers and 21% would be informative for both. Because the OATL1 ScaI RFLP is a relatively common polymorphism, this system should be useful for the identification of ND carriers and affected male fetuses and newborns.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008126 Lod Score The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." Lod Scores,Score, Lod,Scores, Lod
D008297 Male Males
D009953 Ornithine-Oxo-Acid Transaminase A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13. Ornithine Aminotransferase,Ornithine Transaminase,L-Ornithine-2-Oxo-Acid Aminotransferase,L-Ornithine-2-Oxoglutarate Aminotransferase,Ornithine Ketoacid Aminotransferase,Ornithine-2-Ketoglutarate Aminotransferase,Ornithine-Keto-Acid-Transaminase,Ornithine-Ketoacid-Transaminase,Pyrroline-5-Carboxylate Synthase,Aminotransferase, L-Ornithine-2-Oxo-Acid,Aminotransferase, L-Ornithine-2-Oxoglutarate,Aminotransferase, Ornithine,Aminotransferase, Ornithine Ketoacid,Aminotransferase, Ornithine-2-Ketoglutarate,Ketoacid Aminotransferase, Ornithine,L Ornithine 2 Oxo Acid Aminotransferase,L Ornithine 2 Oxoglutarate Aminotransferase,Ornithine 2 Ketoglutarate Aminotransferase,Ornithine Keto Acid Transaminase,Ornithine Ketoacid Transaminase,Ornithine Oxo Acid Transaminase,Pyrroline 5 Carboxylate Synthase,Synthase, Pyrroline-5-Carboxylate,Transaminase, Ornithine,Transaminase, Ornithine-Oxo-Acid
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D012160 Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. Ora Serrata
D012163 Retinal Detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12). Retinal Pigment Epithelial Detachment,Detachment, Retinal,Detachments, Retinal,Retinal Detachments
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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