| Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe. | |
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MedLine Citation:
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PMID: 2568328 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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J T Ngo; J B Bateman; V Cortessis; R S Sparkes; T Mohandas; G Inana; M A Spence |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Genomics Volume: 4 ISSN: 0888-7543 ISO Abbreviation: Genomics Publication Date: 1989 May |
Date Detail:
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Created Date: 1989-08-22 Completed Date: 1989-08-22 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 8800135 Medline TA: Genomics Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 539-45 Citation Subset: IM |
Affiliation:
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Jules Stein Eye Institute, UCLA School of Medicine 90024. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Blindness / enzymology, genetics* DNA DNA Probes* Female Genetic Markers Humans Hybrid Cells Lod Score Male Mice Ornithine-Oxo-Acid Transaminase / genetics* Polymorphism, Genetic* Polymorphism, Restriction Fragment Length* Recombination, Genetic Retina / abnormalities* Transaminases / genetics* X Chromosome* |
| Grant Support | |
ID/Acronym/Agency:
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EY-06772/EY/NEI NIH HHS; EY-07026/EY/NEI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA Probes; 0/Genetic Markers; 9007-49-2/DNA; EC 2.6.1.-/Transaminases; EC 2.6.1.13/Ornithine-Oxo-Acid Transaminase |
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