title: Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.
abstract: Previous study has shown that the usual DNA marker for Norrie disease, the L1.28 probe which identifies the DXS7 locus, can recombine with the disease locus. In this study, we used a human ornithine aminotransferase (OAT) cDNA which detects OAT-related DNA sequences mapped to the same region on the X chromosome as that of the L1.28 probe to investigate the family with Norrie disease who exhibited the recombinational event. When genomic DNA from this family was digested with the PvuII restriction endonuclease, we found a restriction fragment length polymorphism (RFLP) of 4.2 kb in size. This fragment was absent in the affected males and cosegregated with the disease locus; we calculated a lod score of 0.602, at theta = 0.00. No deletion could be detected by chromosomal analysis or on Southern blots with other enzymes. These results suggest that one of the OAT-related sequences on the X chromosome may be in close proximity to the Norrie disease locus and represent the first report which indicates that the OAT cDNA may be useful for the identification of carrier status and/or prenatal diagnosis.
authors.affiliation: Jules Stein Eye Institute, UCLA School of Medicine 90024.
authors.forename: J T
authors.initials: JT
authors.lastname: Ngo
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: V
authors.initials: V
authors.lastname: Cortessis
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
authors.forename: T
authors.initials: T
authors.lastname: Mohandas
authors.forename: G
authors.initials: G
authors.lastname: Inana
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
mesh_terms: D000818:Animals; D001766:Blindness / Q000201:enzymology / Q000235:genetics*; D004247:DNA; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008126:Lod Score; D008297:Male; D051379:Mice; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D012160:Retina / Q000002:abnormalities*; D000637:Transaminases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase