Ornithine aminotransferase (OAT): Recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus

Julielani T. Ngo, J. Bronwyn Bateman, M. Anne Spence, Victoria Cortessis, Robert S. Sparkes, Jane D. Kivlin, T. Mohandas, George Inana

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

A human ornithine aminotransferase (OAT) locus has been mapped to the Xp 11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT.

Original languageEnglish (US)
Pages (from-to)123-128
Number of pages6
JournalGenomics
Volume6
Issue number1
DOIs
StatePublished - Jan 1990
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Ngo, J. T., Bateman, J. B., Spence, M. A., Cortessis, V., Sparkes, R. S., Kivlin, J. D., Mohandas, T., & Inana, G. (1990). Ornithine aminotransferase (OAT): Recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus. Genomics, 6(1), 123-128. https://doi.org/10.1016/0888-7543(90)90456-5