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

J. B. Bateman, T. L. Kojis, R. M. Cantor, C. Heinzmann, J. T. Ngo, M. A. Spence, G. Inana, J. D. Kivlin, D. Curtis, R. S. Sparkes, E. L. Berson

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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; Θ = 0.05). Similarly, we calculated a lod score of 4.06 (Θ = 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.

Original languageEnglish (US)
Pages (from-to)299-308
Number of pages10
JournalTransactions of the American Ophthalmological Society
StatePublished - 1993
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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