title: Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.
abstract: 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.
authors.affiliation: Vision Genetics Center, Jules Stein Eye Institute, UCLA School of Medicine.
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: T L
authors.initials: TL
authors.lastname: Kojis
authors.forename: R M
authors.initials: RM
authors.lastname: Cantor
authors.forename: C
authors.initials: C
authors.lastname: Heinzmann
authors.forename: J T
authors.initials: JT
authors.lastname: Ngo
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
authors.forename: G
authors.initials: G
authors.lastname: Inana
authors.forename: J D
authors.initials: JD
authors.lastname: Kivlin
authors.forename: D
authors.initials: D
authors.lastname: Curtis
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
mesh_terms: D004247:DNA / Q000032:analysis; D015342:DNA Probes; D015252:Deoxyribonucleases, Type II Site-Specific; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012160:Retina / Q000002:abnormalities*; D012163:Retinal Detachment / Q000235:genetics; D014960:X Chromosome / Q000201:enzymology*
chemical_list: D015342:DNA Probes; D004247:DNA; D009953:Ornithine-Oxo-Acid Transaminase; C047020:endodeoxyribonuclease ScaI; D015252:Deoxyribonucleases, Type II Site-Specific