Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous study has shown that the usual DNA marker for Norrie disease, the L1.28 probe which identifies the DXS7 locus, can recombine with the disease locus. In this study, we used a human ornithine aminotransferase (OAT) cDNA which detects OAT-related DNA sequences mapped to the same region on the X chromosome as that of the L1.28 probe to investigate the family with Norrie disease who exhibited the recombinational event. When genomic DNA from this family was digested with the PvuII restriction endonuclease, we found a restriction fragment length polymorphism (RFLP) of 4.2 kb in size. This fragment was absent in the affected males and cosegregated with the disease locus; we calculated a lod score of 0.602, at theta = 0.00. No deletion could be detected by chromosomal analysis or on Southern blots with other enzymes. These results suggest that one of the OAT-related sequences on the X chromosome may be in close proximity to the Norrie disease locus and represent the first report which indicates that the OAT cDNA may be useful for the identification of carrier status and/or prenatal diagnosis.
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PMID:Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe. 256 28

Free polysomes were isolated from the livers of rats maintained on a 60% casein diet to induce ornithine aminotransferase mRNA. Ornithine aminotransferase-synthesizing polysomes were immunoadsorbed using monospecific, affinity-purified antibody and Staphylococcus aureus cells. Poly(A+)RNA prepared from these polysomes by oligo(dT)-cellulose chromatography was used as a template for the synthesis of double-stranded cDNA by reverse transcriptase. Using the deoxyguanosine-5'-triphosphate-deoxycytidine-5'-triphosphate tailing method and pBR322 as a vector, recombinant molecules were produced and used to transform Escherichia coli. Two clones containing DNA complementary to ornithine aminotransferase mRNA were identified by colony hybridization and hybrid-arrest translation. A partial restriction endonuclease map of the ornithine aminotransferase cDNA inserts was constructed which spanned 1066 base pairs.
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PMID:Cloning of DNA complementary to ornithine aminotransferase mRNA. 612 4