Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp 11.2

D. J. Barrett, J. B. Bateman, R. S. Sparkes, T. Mohandas, I. Klisak, G. Inana

Research output: Contribution to journalArticlepeer-review

42 Scopus citations

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 languageEnglish (US)
Pages (from-to)1037-1042
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume28
Issue number7
StatePublished - 1987
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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