Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.
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| 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.
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| Authors | 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 |
| Journal | Transactions of the American Ophthalmological Society (Trans Am Ophthalmol Soc) Vol. 91 Pg. 299-307; discussion 307-8 ( 1993) ISSN: 0065-9533 [Print] United States |
| PMID | 7908152 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.) |
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