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

Abstract

A human ornithine aminotransferase (OAT) locus has been mapped to the Xp11.2, 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.

• Authors: J T Ngo, J B Bateman, M A Spence, V Cortessis, R S Sparkes, J D Kivlin, T Mohandas, G Inana
• Journal: Genomics (Genomics) Vol. 6 Issue 1 Pg. 123-8 (Jan 1990) ISSN: 0888-7543 [Print] United States
• PMID: 1968041 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Transaminases
• Ornithine-Oxo-Acid Transaminase

Topics

• Blotting, Southern
• Genetic Linkage
• Hearing Loss
• Humans
• Intellectual Disability
• Lod Score
• Ornithine-Oxo-Acid Transaminase (genetics)
• Pedigree
• Polymorphism, Restriction Fragment Length
• Recombination, Genetic
• Restriction Mapping
• Retinal Detachment (congenital)
• Syndrome
• Transaminases (genetics)
• X Chromosome