July 1987
Volume 28, Issue 7
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Articles  |   July 1987
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.
Investigative Ophthalmology & Visual Science July 1987, Vol.28, 1037-1042. doi:
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      D J Barrett, J B Bateman, R S Sparkes, T Mohandas, I Klisak, G Inana; Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.. Invest. Ophthalmol. Vis. Sci. 1987;28(7):1037-1042.

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      © ARVO (1962-2015); The Authors (2016-present)

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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 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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