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Investigative Ophthalmology & Visual Science, Vol 28, 1037-1042, Copyright © 1987 by Association for Research in Vision and Ophthalmology

ARTICLES AND REPORTS

Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2

DJ Barrett, JB Bateman, RS Sparkes, T Mohandas, I Klisak and G Inana

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 chromosome 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.




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Copyright © 1987 by the Association for Research in Vision and Ophthalmology