| Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. | |
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MedLine Citation:
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PMID: 1968469 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The status of the arginine vasopressin-neurophysin-II (AVP-NPII) gene was studied in three families with autosomal dominant neurohypophyseal diabetes insipidus (AD-NDI). Restriction fragments of genomic DNA containing AVP-NPII sequences from affected individuals were not detectably different in size from those of normal controls. Thus, these individuals with ADNDI do not have apparent large deletions, insertions, or rearrangements of an AVP-NPII allele. Four restriction fragment length polymorphisms were detected with a probe for the adjacent gene on chromosome 20, oxytocin-neurophysin-I (OT-NPI). Linkage studies in these three families between the restriction fragment length polymorphism haplotypes and ADNDI phenotype strongly suggest cosegregation. This indicates that the genetic locus for ADNDI maps within or near the AVP-NPII locus and suggests that a defective AVP-NPII allele may be the basis of ADNDI. |
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Authors:
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D R Repaske; J A Phillips; L T Kirby; W J Tze; A J D'Ercole; J Battey |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 70 ISSN: 0021-972X ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 1990 Mar |
Date Detail:
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Created Date: 1990-04-04 Completed Date: 1990-04-04 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 752-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill 27599. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Arginine Vasopressin
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analysis,
genetics* Autoradiography Chromosome Mapping DNA Restriction Enzymes Diabetes Insipidus / genetics* Female Genes Genes, Dominant* Genetic Markers / analysis Humans Linkage (Genetics) Lod Score Male Neurophysins / analysis, genetics* Nucleic Acid Hybridization Oxytocin* Pedigree Peptide Fragments / analysis Polymorphism, Restriction Fragment Length Protein Precursors / analysis, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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DK-01434/DK/NIDDK NIH HHS; DK-07061/DK/NIDDK NIH HHS; DK-35592/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/Neurophysins; 0/Peptide Fragments; 0/Protein Precursors; 113-79-1/Arginine Vasopressin; 50-56-6/Oxytocin; EC 3.1.21.-/DNA Restriction Enzymes |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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