Abstract
Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosomes OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1037-1042 |
| Number of pages | 6 |
| Journal | Investigative Ophthalmology and Visual Science |
| Volume | 28 |
| Issue number | 7 |
| State | Published - Aug 18 1987 |
| Externally published | Yes |
ASJC Scopus subject areas
- Ophthalmology
- Sensory Systems
- Cellular and Molecular Neuroscience
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Cite this
Barrett, D. J., Bateman, J. B., Sparkes, R. S., Mohandas, T., Klisak, I., & Inana, G. (1987). Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp 11.2. Investigative Ophthalmology and Visual Science, 28(7), 1037-1042.