| Analysis of the apoC-II gene in apoC-II deficient patients. | |
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MedLine Citation:
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PMID: 6093789 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Apolipoprotein C-II (apoC-II), a 79 amino acid protein, is a cofactor for lipoprotein lipase, the enzyme which catalyzes the lipolysis of triglycerides on plasma chylomicrons and VLDL. Patients with apoC-II deficiency have marked elevations in plasma triglycerides, chylomicrons, VLDL, and a type I hyperlipoproteinemia. In order to evaluate the molecular defect in apoC-II deficiency, genomic DNA was analyzed using Southern Blot from 2 independent apoC-II deficient patients and compared to normal controls. Restriction digests of genomic DNA were performed with five different enzymes and the restriction fragments analyzed utilizing a 354 base pair nick-translated apoC-II probe for hybridization following Southern blotting. The restriction fragments varied from 0.8 to 21 Kb, and the pattern with normal DNA was identical to that of the two apoC-II deficient patients. The present study reveals that the apoC-II gene is present in patients with apoC-II deficiency. In addition, no insertional or deletional polymorphism was detected in the apoC-II gene of apoC-II deficient patients. |
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Authors:
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S S Fojo; S W Law; D L Sprecher; R E Gregg; G Baggio; H B Brewer |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Biochemical and biophysical research communications Volume: 124 ISSN: 0006-291X ISO Abbreviation: Biochem. Biophys. Res. Commun. Publication Date: 1984 Oct |
Date Detail:
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Created Date: 1984-12-05 Completed Date: 1984-12-05 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0372516 Medline TA: Biochem Biophys Res Commun Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 308-13 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Apolipoprotein C-II Apolipoproteins C / deficiency*, genetics Base Sequence Child Cloning, Molecular* DNA / isolation & purification, metabolism DNA Restriction Enzymes Female Genes* Humans Male Nucleic Acid Hybridization Reference Values |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein C-II; 0/Apolipoproteins C; 9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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