Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes |
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| Authors: | Vijaya Ramesh Roger Eddy Gail A Bruns Vivian E Shih Thomas B Shows James F Gusella |
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| Institution: | (1) Amino Acid Disorder and Laboratory, Neurology Service, Massachusetrs General Hospital, 02114 Boston, MA, USA;(2) Neurogenetics Laboratory, Neurology Service, Massachusetrs General Hospital, 02114 Boston, MA, USA;(3) Department of Genetics, Harvard Medical School, 02114 Boston, MA, USA;(4) Department of Human Genetics, Roswell Park Memorial Institute, 14263 Buffalo, NY, USA;(5) Genetics Division, Children's Hospital, 02115 Boston, MA, USA |
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| Abstract: | Summary We have used a full length cDNA clone to determine the chromosomal location ofthegene encoding human ornithine aminotransferase (OAT), a mitochondrial matrix enzyme. Southern blot analysis of ScaI-digested DNA from 34 human-mouse somatic cell hybrids revealed 11 human fragments. Three fragments mapped to chromosome 10q23-10qter, confirming the previous provisional assignment of the functional gene to this autosome by analysis of OAT expression in somatic cell hybrids (O'Donnell et al. 1985). The remaining eight fragments were assigned to the X chromosome, and regionally assigned to Xp21-Xp11 by use of an X-chromosome mapping panel. These X chromosome sequences could represent pseudogenes, or related members of a multigene family. Two of the X chromosome fragments are alternate alleles of a restriction fragment length polymorphism (RFLP) making this OAT-related locus an excellent genetic marker. The RFLP may now be used to determine any possible relationship between this locus and several X-linked eye defects. |
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